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  1. Article ; Online: The multiple twists in the tale: Brain iron accumulation, facial jerks, and truncal dystonia.

    Chouksey, Anjali / Mohan, Sony / Aaron, Rekha / Mathew, Vivek

    Parkinsonism & related disorders

    2022  Volume 106, Page(s) 105014

    MeSH term(s) Humans ; Dystonia ; Dystonic Disorders ; Dyskinesias ; Brain/diagnostic imaging ; Brain/metabolism ; Iron ; Sarcoglycans/genetics ; Myoclonus ; Mutation
    Chemical Substances Iron (E1UOL152H7) ; Sarcoglycans
    Language English
    Publishing date 2022-03-18
    Publishing country England
    Document type Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2022.03.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 4553: Show issues Location:
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    Zs.MO 420: Show issues

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  2. Article ; Online: Restrictive Dermopathy Due to

    Chiramel, Minu Jose / Sathishkumar, Dharshini / Santhanam, Sridhar / Ponmudi, Nithya J / Telugu, Ramesh Babu / Mohan, Sony / Athiyarath, Rekha

    Indian journal of dermatology

    2024  Volume 69, Issue 1, Page(s) 95–97

    Language English
    Publishing date 2024-02-27
    Publishing country India
    Document type Journal Article
    ZDB-ID 416069-1
    ISSN 1998-3611 ; 0019-5154
    ISSN (online) 1998-3611
    ISSN 0019-5154
    DOI 10.4103/ijd.ijd_681_23
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (

    Mohan, Sony / Danda, Sumita / Mathai, Sarah / Simon, Anna

    The National medical journal of India

    2020  Volume 32, Issue 3, Page(s) 141–143

    Abstract: Background: Nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene previously known as DAX1 is a transcription factor that plays a key role in the development of hypothalamo-pituitary-gonadal and adrenal axis. Primary adrenal failure may result ... ...

    Abstract Background: Nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene previously known as DAX1 is a transcription factor that plays a key role in the development of hypothalamo-pituitary-gonadal and adrenal axis. Primary adrenal failure may result from metabolic, infection, autoimmune or developmental causes resulting in a life-threatening condition needing immediate intervention. This study aimed to analyse NR0B1 (DAX1) gene mutation resulting in adrenal hypoplasia congenita (AHC) in three brothers presenting with hypogonadotropic hypogonadism and primary adrenal failure either in infancy or in early childhood.
    Methods: We studied three boys with primary adrenal failure and hypogonadotropic hypogonadism presenting at different ages at the Paediatric Endocrinology Clinic. Muta- tional analysis of NR0B1 gene was carried out by bidirectional sequencing.
    Results: All the three boys had deletion of G in exon 1 at position 189 (c.189_189delG) of the gene resulting in frame shift mutation (Y64Tfs*21).
    Conclusion: Novel mutation in NR0B1 detected by this study explained the cause ofhypogonadotropic hypogonadism with primary adrenal failure in this Indian family. Intrafamilial variability was seen in this family. Early diagnosis by genetic testing, genetic counselling and family screening can help to manage this life-threatening condition.
    MeSH term(s) Adolescent ; Adult ; DAX-1 Orphan Nuclear Receptor/genetics ; Humans ; Hypoadrenocorticism, Familial/genetics ; India ; Male ; Mutation/genetics ; Siblings ; Young Adult
    Chemical Substances DAX-1 Orphan Nuclear Receptor ; NR0B1 protein, human
    Language English
    Publishing date 2020-04-06
    Publishing country India
    Document type Case Reports ; Journal Article
    ZDB-ID 645116-0
    ISSN 0970-258X
    ISSN 0970-258X
    DOI 10.4103/0970-258X.278692
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2493: Show issues Location:
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  4. Article ; Online: Long-Term Follow-Up of a Patient with a De Novo p.Arg769Cys Mutation in the

    Chouksey, Anjali / Vijayaraghavan, Asish / Mohan, Sony / Inturi, Srija / Prabhakar, A T / Mathew, Vivek

    Movement disorders clinical practice

    2021  Volume 8, Issue 8, Page(s) 1263–1265

    Language English
    Publishing date 2021-09-10
    Publishing country United States
    Document type Journal Article
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13332
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent.

    Das, Sweta / Thomas, Maya / Yoganathan, Sangeetha / Muthusamy, Karthik / Barney, Anitha M / A, Suneetha Susan Cleave / Dutta, Atanu Kumar / A, Rekha / Mohan, Sony / Danda, Sumita

    European journal of medical genetics

    2023  Volume 66, Issue 6, Page(s) 104766

    Abstract: Background: Ataxia-Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder. It is caused by mutations in the Ataxia-Telangiectasia mutated (ATM) gene, which codes for protein ATM serine/threonine kinase.: Objective: We aim to ... ...

    Abstract Background: Ataxia-Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder. It is caused by mutations in the Ataxia-Telangiectasia mutated (ATM) gene, which codes for protein ATM serine/threonine kinase.
    Objective: We aim to describe the clinical and radiological findings in children and adolescents of 20 molecularly confirmed cases of AT. We aim to correlate these findings with the genotype identified among them.
    Methods: This retrospective study included 20 patients diagnosed clinically and genetically with AT over 10 years. The clinical, radiological and laboratory data were extracted from the hospital's electronic medical records. Molecular testing was done using next generation sequencing and Sanger sequencing. In silico predictions were performed for the variants identified by applying Cryp-Skip, Splice site prediction by Neural Network, Mutation Taster and Hope prediction tool.
    Results: Consanguinity was documented in nearly half of the patients. Telangiectasia was absent in 10%. Microcephaly was seen in 40% cases. The incidence of malignancy in our study population was low. Molecular testing done in the 18 families (20 patients) identified 23 variants of which ten were novel. Biallelic homozygous variants were noted in 13 families and compound heterozygous in 5 families. Out of the 13 families who were homozygous, 8 families (61.5%) (9 patients) have history of consanguinity. In silico prediction of novel missense variants, NM_000051.4 (ATM_v201): c.2702T > C showed disruption of the α-helix of ATM protein and NM_000051.4 (ATM_v201): c.6679C > G is expected to disturb the rigidity of protein structure in the FAT domain. The four novel splice site variants and two intronic variants result in exon skipping as predicted by Cryp-Skip.
    Conclusions: AT should be confirmed by molecular testing in young-onset cerebellar ataxia, even without telangiectasia. Awareness of this rare disease will facilitate study of larger cohorts from Indian population to characterize variants and determine its prevalence in this population.
    MeSH term(s) Child ; Adolescent ; Humans ; Ataxia Telangiectasia/epidemiology ; Ataxia Telangiectasia/genetics ; Ataxia Telangiectasia/diagnosis ; Retrospective Studies ; Mutation ; Protein Serine-Threonine Kinases/genetics ; Proteins/genetics
    Chemical Substances Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Proteins
    Language English
    Publishing date 2023-04-17
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2023.104766
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 84/9: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Article ; Online: Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.

    Danda, Sumita / Mohan, Sony / Devaraj, Prabavathi / Dutta, Atanu K / Nampoothiri, Sheela / Yesodharan, Dhanya / Phadke, Shubha R / Jalan, Anil B / Thangaraj, K / Verma, Ishwar Chandra / Danda, Debashish / Jebaraj, Isaac

    Clinical rheumatology

    2020  Volume 39, Issue 9, Page(s) 2743–2749

    Abstract: Introduction: Alkaptonuria (AKU) is a rare metabolic disease. The global incidence is 1:100,000 to 1:250,000. However, identification of a founder mutation in a gypsy population from India prompted us to study the prevalence of AKU in this population ... ...

    Abstract Introduction: Alkaptonuria (AKU) is a rare metabolic disease. The global incidence is 1:100,000 to 1:250,000. However, identification of a founder mutation in a gypsy population from India prompted us to study the prevalence of AKU in this population and to do molecular typing in referred cases of AKU from the rest of India.
    Objective: To determine the prevalence of AKU in the gypsy population predominantly residing in the seven districts of Tamil Nadu. To determine the molecular characteristic of AKU cases referred to our clinic from various parts of India.
    Method: Urine spot test to detect homogentisic acid followed by quantitative estimation using high-performance liquid chromatography in 499 participants from the gypsy population and confirming the founder mutation in those with high levels by sequencing. Sequence the homogentisate 1,2-dioxygenase (HGD) gene to identify mutations and variants in 29 AKU non-gypsy cases.
    Results: The founder mutation was detected in homozygous state in 41/499 AKU-affected individuals of the gypsy community giving a high prevalence of 8.4%. Low back pain, knee pain, and eye and ear pigmentation were the most common symptoms and signs respectively. The commonest mutation identified in the non-gypsy AKU cases was p.Ala122Val.
    Conclusion: High prevalence of AKU in the inbred gypsy population at 8.4% was detected confirming the founder effect. Urine screening provided a cost-effective method to detect the disease early. Mutation spectrum is varied in the rest of the Indian population. This study identified maximum number of mutations in exon 6 of the HGD gene. Key Points • High prevalence (8.4%) of alkaptonuria (AKU) in the gypsy population due to founder mutation in the HGD gene. • Inbreeding exemplifies the founder effects of this rare genetic disorder. • Urinary screening is a cost-effective method in this community for early detection of AKU and intervention. • The mutation spectrum causing AKU is diverse in the rest of the Indian population.
    MeSH term(s) Alkaptonuria/diagnosis ; Alkaptonuria/genetics ; Dioxygenases ; Founder Effect ; Homogentisate 1,2-Dioxygenase/genetics ; Humans ; India ; Mutation ; Roma/genetics
    Chemical Substances Dioxygenases (EC 1.13.11.-) ; Homogentisate 1,2-Dioxygenase (EC 1.13.11.5)
    Language English
    Publishing date 2020-03-24
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 604755-5
    ISSN 1434-9949 ; 0770-3198
    ISSN (online) 1434-9949
    ISSN 0770-3198
    DOI 10.1007/s10067-020-05020-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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