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  1. Article: Encapsulation of bioactive agent (Curcumin, Moringa) in electrospun nanofibers - Some insights into recent research trends.

    Sundhari, D / Dhineshbabu, N R / Sutha, S / Raja Saravanan, M E

    Materials today. Proceedings

    2021  Volume 46, Page(s) 2682–2685

    Abstract: As the epidemic of coronavirus disease (COVID-19) has spread rapidly, health organizations around the world has made wearing face mask obligatory to prevent the spread of the infections for the wellness of the society. As wearing face masks become a ... ...

    Abstract As the epidemic of coronavirus disease (COVID-19) has spread rapidly, health organizations around the world has made wearing face mask obligatory to prevent the spread of the infections for the wellness of the society. As wearing face masks become a daily routine, the usage of cloth facemasks from textile fabric, is popular among the public. Since antiquity, textiles have been proven to be intertwined with human lives and the integrant of these crucial materials are fibers. Particularly, nanofiber fabrics manufactured by electrospinning have attracted attention, owing to the better filtration efficiency and breathability. In addition, the electrospinning process provide opportunities to fine tuning of the surface functionality through polymer chemistry and an encapsulation of bioactive agents in single step process. This review opens up a new horizon in possible textile applications especially, an active layer of bioactive agent (Curcumin and Moringa) loaded nanofibrous fabrics-based facemasks for day to day life.
    Language English
    Publishing date 2021-03-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 2797693-2
    ISSN 2214-7853
    ISSN 2214-7853
    DOI 10.1016/j.matpr.2021.02.367
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  2. Article ; Online: Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel.

    Kannan-Sundhari, Abhiraami / Yan, Denise / Saeidi, Kolsoum / Sahebalzamani, Afsaneh / Blanton, Susan H / Liu, Xue Zhong

    Genetic testing and molecular biomarkers

    2020  Volume 24, Issue 10, Page(s) 674–680

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Adult ; Child ; Child, Preschool ; Deafness/genetics ; Exome/genetics ; Family ; Female ; Genetic Linkage/genetics ; Genetic Testing/methods ; Hearing Loss/diagnosis ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Iran ; Male ; Middle Aged ; Mutation/genetics ; Mutation, Missense/genetics ; Pedigree ; Whole Exome Sequencing/methods
    Chemical Substances Intercellular Signaling Peptides and Proteins
    Language English
    Publishing date 2020-09-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2486664-7
    ISSN 1945-0257 ; 1945-0265
    ISSN (online) 1945-0257
    ISSN 1945-0265
    DOI 10.1089/gtmb.2020.0153
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5195: Show issues Location:
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  3. Article ; Online: A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.

    Wang, Li / Feng, Yong / Yan, Denise / Qin, Litao / Grati, M'hamed / Mittal, Rahul / Li, Tao / Sundhari, Abhiraami Kannan / Liu, Yalan / Chapagain, Prem / Blanton, Susan H / Liao, Shixiu / Liu, Xuezhong

    Human genetics

    2018  Volume 137, Issue 6-7, Page(s) 437–446

    Abstract: Identification of genes with variants causing non-syndromic hearing loss (NSHL) is challenging due to genetic heterogeneity. The difficulty is compounded by technical limitations that in the past prevented comprehensive gene identification. Recent ... ...

    Abstract Identification of genes with variants causing non-syndromic hearing loss (NSHL) is challenging due to genetic heterogeneity. The difficulty is compounded by technical limitations that in the past prevented comprehensive gene identification. Recent advances in technology, using targeted capture and next-generation sequencing (NGS), is changing the face of gene identification and making it possible to rapidly and cost-effectively sequence the whole human exome. Here, we characterize a five-generation Chinese family with progressive, postlingual autosomal dominant nonsyndromic hearing loss (ADNSHL). By combining population-specific mutation arrays, targeted deafness genes panel, whole exome sequencing (WES), we identified PDE1C (Phosphodiesterase 1C) c.958G>T (p.A320S) as the disease-associated variant. Structural modeling insights into p.A320S strongly suggest that the sequence alteration will likely affect the substrate-binding pocket of PDE1C. By whole-mount immunofluorescence on postnatal day 3 mouse cochlea, we show its expression in outer (OHC) and inner (IHC) hair cells cytosol co-localizing with Lamp-1 in lysosomes. Furthermore, we provide evidence that the variant alters the PDE1C hydrolytic activity for both cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP). Collectively, our findings indicate that the c.958G>T variant in PDE1C may disrupt the cross talk between cGMP-signaling and cAMP pathways in Ca
    MeSH term(s) Animals ; Asian People/genetics ; Cochlea/growth & development ; Cochlea/metabolism ; Cochlea/physiopathology ; Cyclic AMP/genetics ; Cyclic Nucleotide Phosphodiesterases, Type 1/genetics ; Deafness/genetics ; Deafness/physiopathology ; Disease Models, Animal ; Female ; Gene Expression Regulation, Developmental/genetics ; Genes, Dominant ; Genotype ; Homeostasis/genetics ; Humans ; Lysosomal Membrane Proteins/genetics ; Lysosomes/genetics ; Male ; Mice ; Mutation ; Pedigree ; Exome Sequencing
    Chemical Substances Lamp1 protein, mouse ; Lysosomal Membrane Proteins ; Cyclic AMP (E0399OZS9N) ; Cyclic Nucleotide Phosphodiesterases, Type 1 (EC 3.1.4.17) ; PDE1C protein, human (EC 3.1.4.17)
    Language English
    Publishing date 2018-06-02
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-018-1895-y
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  4. Article ; Online: The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

    Yan, Denise / Kannan-Sundhari, Abhiraami / Vishwanath, Subramanian / Qing, Jie / Mittal, Rahul / Kameswaran, Mohan / Liu, Xue Zhong

    Genetic testing and molecular biomarkers

    2015  Volume 19, Issue 9, Page(s) 512–527

    Abstract: Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially ... ...

    Abstract Deafness encompasses a series of etiologically heterogeneous disorders with mutations in more than 400 independent genes. However, several studies indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in the racially diverse Indian and Pakistani populations are caused by defects in just a few genes. In these countries, there is a strong cultural preference for consanguineous marriage and an associated relatively high prevalence of genetic disorders. The current Indian population is approximately 1.2 billion and it is estimated that 30,000 infants are born with congenital sensorineural hearing loss (HL) each year. The estimated rate of profound bilateral HL is 1.6 per 1000 in Pakistan and 70% of this HL arises in consanguineous families. Knowledge of the genetic cause of deafness within a distinct population is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options. Many sources and technologies are now available for the testing of hearing efficiency. Population-based screening has been proposed as one of the major strategies for translating genetic and genomic advances into population health gains. This review of the genetics of deafness in Indian and Pakistani populations deals with the major causes of deafness in these countries and prospectives for reducing the incidence of inherited deafness.
    MeSH term(s) Consanguinity ; Deafness/genetics ; Ethnic Groups/genetics ; Female ; Hearing Loss, Sensorineural/genetics ; Humans ; Incidence ; India ; Male ; Mutation ; Pakistan ; Prevalence
    Language English
    Publishing date 2015-07-17
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 2486664-7
    ISSN 1945-0257 ; 1945-0265
    ISSN (online) 1945-0257
    ISSN 1945-0265
    DOI 10.1089/gtmb.2015.0023
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  5. Article ; Online: PDZD7-MYO7A complex identified in enriched stereocilia membranes.

    Morgan, Clive P / Krey, Jocelyn F / Grati, M'hamed / Zhao, Bo / Fallen, Shannon / Kannan-Sundhari, Abhiraami / Liu, Xue Zhong / Choi, Dongseok / Müller, Ulrich / Barr-Gillespie, Peter G

    eLife

    2016  Volume 5

    Abstract: While more than 70 genes have been linked to deafness, most of which are expressed in mechanosensory hair cells of the inner ear, a challenge has been to link these genes into molecular pathways. One example is Myo7a (myosin VIIA), in which deafness ... ...

    Abstract While more than 70 genes have been linked to deafness, most of which are expressed in mechanosensory hair cells of the inner ear, a challenge has been to link these genes into molecular pathways. One example is Myo7a (myosin VIIA), in which deafness mutations affect the development and function of the mechanically sensitive stereocilia of hair cells. We describe here a procedure for the isolation of low-abundance protein complexes from stereocilia membrane fractions. Using this procedure, combined with identification and quantitation of proteins with mass spectrometry, we demonstrate that MYO7A forms a complex with PDZD7, a paralog of USH1C and DFNB31. MYO7A and PDZD7 interact in tissue-culture cells, and co-localize to the ankle-link region of stereocilia in wild-type but not Myo7a mutant mice. Our data thus describe a new paradigm for the interrogation of low-abundance protein complexes in hair cell stereocilia and establish an unanticipated link between MYO7A and PDZD7.
    MeSH term(s) Animals ; Carrier Proteins/analysis ; Carrier Proteins/isolation & purification ; Mass Spectrometry ; Membranes/chemistry ; Mice ; Myosin VIIa ; Myosins/analysis ; Myosins/isolation & purification ; Protein Binding ; Stereocilia/chemistry
    Chemical Substances Carrier Proteins ; Myo7a protein, mouse ; Myosin VIIa ; PDZD7 protein, mouse ; Myosins (EC 3.6.4.1)
    Language English
    Publishing date 2016-08-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.18312
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  6. Article ; Online: MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.

    Grati, M'hamed / Yan, Denise / Raval, Manmeet H / Walsh, Tom / Ma, Qi / Chakchouk, Imen / Kannan-Sundhari, Abhiraami / Mittal, Rahul / Masmoudi, Saber / Blanton, Susan H / Tekin, Mustafa / King, Mary-Claire / Yengo, Christopher M / Liu, Xue Zhong

    Human mutation

    2016  Volume 37, Issue 5, Page(s) 481–487

    Abstract: Hereditary hearing loss (HL) is characterized by both allelic and locus genetic heterogeneity. Both recessive and dominant forms of HL may be caused by different mutations in the same deafness gene. In a family with post-lingual progressive non-syndromic ...

    Abstract Hereditary hearing loss (HL) is characterized by both allelic and locus genetic heterogeneity. Both recessive and dominant forms of HL may be caused by different mutations in the same deafness gene. In a family with post-lingual progressive non-syndromic deafness, whole-exome sequencing of genomic DNA from five hearing-impaired relatives revealed a single variant, p.Gly488Glu (rs145970949:G>A) in MYO3A, co-segregating with HL as an autosomal dominant trait. This amino acid change, predicted to be pathogenic, alters a highly conserved residue in the motor domain of MYO3A. The mutation severely alters the ATPase activity and motility of the protein in vitro, and the mutant protein fails to accumulate in the filopodia tips in COS7 cells. However, the mutant MYO3A was able to reach the tips of organotypic inner ear culture hair cell stereocilia, raising the possibility of a local effect on positioning of the mechanoelectrical transduction (MET) complex at the stereocilia tips. To address this hypothesis, we investigated the interaction of MYO3A with the cytosolic tail of the integral tip-link protein protocadherin 15 (PCDH15), a core component of MET complex. Interestingly, we uncovered a novel interaction between MYO3A and PCDH15 shedding new light on the function of myosin IIIA at stereocilia tips.
    MeSH term(s) Amino Acid Substitution ; Animals ; COS Cells ; Cadherins/metabolism ; Cells, Cultured ; Cercopithecus aethiops ; Child ; Child, Preschool ; Deafness/genetics ; Deafness/metabolism ; Female ; Genetic Predisposition to Disease ; Hair Cells, Auditory, Inner/cytology ; Hair Cells, Auditory, Inner/metabolism ; Humans ; Male ; Middle Aged ; Myosin Heavy Chains/genetics ; Myosin Heavy Chains/metabolism ; Myosin Type III/genetics ; Myosin Type III/metabolism ; Pedigree ; Polymorphism, Single Nucleotide
    Chemical Substances Cadherins ; PCDH15 protein, human ; MYO3A protein, human (EC 2.7.11.1) ; Myosin Type III (EC 3.6.1.-) ; Myosin Heavy Chains (EC 3.6.4.1)
    Language English
    Publishing date 2016-05
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.22961
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  7. Article: Voice processing for COVID-19 scanning and prognostic indicator

    Sondhi, Savita / Salhan, Ashok / Santoso, Claire A. / Doucoure, Mariam / Dharmawan, Deandra M. / Sureka, Aastha / Natasha, Btari N. / Danusaputro, Artaya D. / Dowson, Nilakandiah S. / Yap, Michelle S. Li / Hadiwidjaja, Moira A. / Veeraraghavan, Sundhari G. / Hatta, Athalia Z.R. / Lee, Chaerin / Megantara, Ruben A. / Wihardja, Alexandra N. / Sharma, Mansi / Lardizabal, Erdolfo L. / Sondhi, Laevin Jay /
    Raina, Roma / Vashisth, Sharda / Hedwig, Rinda

    Heliyon. 2021 Oct., v. 7, no. 10

    2021  

    Abstract: COVID-19 pandemic has posed serious risk of contagion to humans. There is a need to find reliable non-contact tests like vocal correlates of COVID-19 infection. Thirty-six Asian ethnic volunteers 16 (8M & 8F) infected subjects and 20 (10M &10F) non- ... ...

    Abstract COVID-19 pandemic has posed serious risk of contagion to humans. There is a need to find reliable non-contact tests like vocal correlates of COVID-19 infection. Thirty-six Asian ethnic volunteers 16 (8M & 8F) infected subjects and 20 (10M &10F) non-infected controls participated in this study by vocalizing vowels /a/, /e/, /i/, /o/, /u/. Voice correlates of 16 COVID-19 positive patients were compared during infection and after recovery with 20 non-infected controls. Compared to non-infected controls, significantly higher values of energy intensity for /o/ (p = 0.048); formant F1 for /o/ (p = 0.014); and formant F3 for /u/ (p = 0.032) were observed in male patients, while higher values of Jitter (local, abs) for /o/ (p = 0.021) and Jitter (ppq5) for /a/ (p = 0.014) were observed in female patients. However, formant F2 for /u/ (p = 0.018), mean pitch F0 for /e/, /i/ and /o/ (p = 0.033; 0.036; 0.047) decreased for female patients under infection. Compared to recovered conditions, HNR for /e/ (p = 0.014) was higher in male patients under infection, while Jitter (rap) for /a/ (p = 0.041); Jitter (ppq5) for /a/ (p = 0.032); Shimmer (local, dB) for /i/ (p = 0.024); Shimmer (apq5) for /u/ (p = 0.019); and formant F4 for vowel /o/ (p = 0.022) were higher in female patients under infection. However, HNR for /e/ (p = 0.041); and formant F1 for /o/ (p = 0.002) were lower in female patients compared to their recovered conditions. Obtained results support the hypothesis since changes in voice parameters were observed in the infected patients which can be correlated to a combination of acoustic measures like fundamental frequency, formant characteristics, HNR, and voice perturbations like jitter and shimmer for different vowels. Thus, voice analysis can be used for scanning and prognosis of COVID-19 infection. Based on the findings of this study, a mobile application can be developed to analyze human voice in real-time to detect COVID-19 symptoms for remedial measures and necessary action.
    Keywords COVID-19 infection ; acoustics ; energy ; females ; humans ; males ; prognosis ; risk
    Language English
    Dates of publication 2021-10
    Publishing place Elsevier Ltd
    Document type Article
    ZDB-ID 2835763-2
    ISSN 2405-8440
    ISSN 2405-8440
    DOI 10.1016/j.heliyon.2021.e08134
    Database NAL-Catalogue (AGRICOLA)

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  8. Article: Voice processing for COVID-19 scanning and prognostic indicator.

    Sondhi, Savita / Salhan, Ashok / Santoso, Claire A / Doucoure, Mariam / Dharmawan, Deandra M / Sureka, Aastha / Natasha, Btari N / Danusaputro, Artaya D / Dowson, Nilakandiah S / Yap, Michelle S Li / Hadiwidjaja, Moira A / Veeraraghavan, Sundhari G / Hatta, Athalia Z R / Lee, Chaerin / Megantara, Ruben A / Wihardja, Alexandra N / Sharma, Mansi / Lardizabal, Erdolfo L / Sondhi, Laevin Jay /
    Raina, Roma / Vashisth, Sharda / Hedwig, Rinda

    Heliyon

    2021  Volume 7, Issue 10, Page(s) e08134

    Abstract: COVID-19 pandemic has posed serious risk of contagion to humans. There is a need to find reliable non-contact tests like vocal correlates of COVID-19 infection. Thirty-six Asian ethnic volunteers 16 (8M & 8F) infected subjects and 20 (10M &10F) non- ... ...

    Abstract COVID-19 pandemic has posed serious risk of contagion to humans. There is a need to find reliable non-contact tests like vocal correlates of COVID-19 infection. Thirty-six Asian ethnic volunteers 16 (8M & 8F) infected subjects and 20 (10M &10F) non-infected controls participated in this study by vocalizing vowels /a/, /e/, /i/, /o/, /u/. Voice correlates of 16 COVID-19 positive patients were compared during infection and after recovery with 20 non-infected controls. Compared to non-infected controls, significantly higher values of energy intensity for /o/ (
    Language English
    Publishing date 2021-10-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 2835763-2
    ISSN 2405-8440
    ISSN 2405-8440
    DOI 10.1016/j.heliyon.2021.e08134
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Voice processing for COVID-19 scanning and prognostic indicator

    Savita Sondhi / Ashok Salhan / Claire A. Santoso / Mariam Doucoure / Deandra M. Dharmawan / Aastha Sureka / Btari N. Natasha / Artaya D. Danusaputro / Nilakandiah S. Dowson / Michelle S. Li. Yap / Moira A. Hadiwidjaja / Sundhari G. Veeraraghavan / Athalia Z.R. Hatta / Chaerin Lee / Ruben A. Megantara / Alexandra N. Wihardja / Mansi Sharma / Erdolfo L. Lardizabal / Laevin Jay Sondhi /
    Roma Raina / Sharda Vashisth / Rinda Hedwig

    Heliyon, Vol 7, Iss 10, Pp e08134- (2021)

    2021  

    Abstract: COVID-19 pandemic has posed serious risk of contagion to humans. There is a need to find reliable non-contact tests like vocal correlates of COVID-19 infection. Thirty-six Asian ethnic volunteers 16 (8M & 8F) infected subjects and 20 (10M &10F) non- ... ...

    Abstract COVID-19 pandemic has posed serious risk of contagion to humans. There is a need to find reliable non-contact tests like vocal correlates of COVID-19 infection. Thirty-six Asian ethnic volunteers 16 (8M & 8F) infected subjects and 20 (10M &10F) non-infected controls participated in this study by vocalizing vowels /a/, /e/, /i/, /o/, /u/. Voice correlates of 16 COVID-19 positive patients were compared during infection and after recovery with 20 non-infected controls. Compared to non-infected controls, significantly higher values of energy intensity for /o/ (p = 0.048); formant F1 for /o/ (p = 0.014); and formant F3 for /u/ (p = 0.032) were observed in male patients, while higher values of Jitter (local, abs) for /o/ (p = 0.021) and Jitter (ppq5) for /a/ (p = 0.014) were observed in female patients. However, formant F2 for /u/ (p = 0.018), mean pitch F0 for /e/, /i/ and /o/ (p = 0.033; 0.036; 0.047) decreased for female patients under infection. Compared to recovered conditions, HNR for /e/ (p = 0.014) was higher in male patients under infection, while Jitter (rap) for /a/ (p = 0.041); Jitter (ppq5) for /a/ (p = 0.032); Shimmer (local, dB) for /i/ (p = 0.024); Shimmer (apq5) for /u/ (p = 0.019); and formant F4 for vowel /o/ (p = 0.022) were higher in female patients under infection. However, HNR for /e/ (p = 0.041); and formant F1 for /o/ (p = 0.002) were lower in female patients compared to their recovered conditions. Obtained results support the hypothesis since changes in voice parameters were observed in the infected patients which can be correlated to a combination of acoustic measures like fundamental frequency, formant characteristics, HNR, and voice perturbations like jitter and shimmer for different vowels. Thus, voice analysis can be used for scanning and prognosis of COVID-19 infection. Based on the findings of this study, a mobile application can be developed to analyze human voice in real-time to detect COVID-19 symptoms for remedial measures and necessary action.
    Keywords COVID-19 ; Fundamental frequency ; Jitter ; Shimmer ; Asymptomatic ; Acoustic analysis ; Science (General) ; Q1-390 ; Social sciences (General) ; H1-99
    Subject code 150
    Language English
    Publishing date 2021-10-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

    Yan, Denise / Tekin, Demet / Bademci, Guney / Foster, Joseph / Cengiz, F Basak / Kannan-Sundhari, Abhiraami / Guo, Shengru / Mittal, Rahul / Zou, Bing / Grati, Mhamed / Kabahuma, Rosemary I / Kameswaran, Mohan / Lasisi, Taye J / Adedeji, Waheed A / Lasisi, Akeem O / Menendez, Ibis / Herrera, Marianna / Carranza, Claudia / Maroofian, Reza /
    Crosby, Andrew H / Bensaid, Mariem / Masmoudi, Saber / Behnam, Mahdiyeh / Mojarrad, Majid / Feng, Yong / Duman, Duygu / Mawla, Alex M / Nord, Alex S / Blanton, Susan H / Liu, Xue Z / Tekin, Mustafa

    Human genetics

    2016  Volume 135, Issue 8, Page(s) 953–961

    Abstract: Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive ... ...

    Abstract Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity.
    MeSH term(s) Deafness/epidemiology ; Deafness/genetics ; Ethnicity/genetics ; Female ; Genetic Testing ; Genetics, Population ; Humans ; Male ; Mutation ; Usher Syndromes/epidemiology ; Usher Syndromes/genetics
    Language English
    Publishing date 2016-06-25
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-016-1697-z
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    ab Jg. 2022: Lesesaal (EG)

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