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  1. Article ; Online: Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.

    Sabry, Sahar / Eissa, Noura R / Zaki, Maha S

    BMC research notes

    2023  Volume 16, Issue 1, Page(s) 53

    Abstract: Objective: The study of the impact of some inherited defects in glycosylation on the biosynthesis of some lysosomal glycoproteins. Results description: Whole-exome sequencing revealed a homozygous variant; 428G > A; p. (R143K) in SRD5A3 in one patient ... ...

    Abstract Objective: The study of the impact of some inherited defects in glycosylation on the biosynthesis of some lysosomal glycoproteins. Results description: Whole-exome sequencing revealed a homozygous variant; 428G > A; p. (R143K) in SRD5A3 in one patient and a heterozygous one c.46G > A p. (Gly16Arg) in SLC35A2 in the other patient. Both variants were predicted to be likely pathogenic. Lysosome-associated membrane glycoprotein 2 (LAMP2) immunodetection in both cases showed a truncated form of the protein. Cystinosin (CTN) protein appeared as normal and truncated forms in both patients in ratios of the mature to truncated forms of CTN were lower than the control. The levels of the truncated forms of both cellular proteins were higher in the SRD5A3-CDG case compared to the SLC35A2-CDG case. The tetrameric form of cathepsin C (CTSC) was expressed at low levels in both cases with congenital disorder of glycosylation (CDG). SLC35A2-CDG patient had one extra-unknown band while SRD5A3-CDG patient had a missing band of CTSC forms. The expression patterns of lysosomal glycoproteins could be different between different types of CDG.
    MeSH term(s) Humans ; Glycosylation ; Congenital Disorders of Glycosylation/genetics ; Congenital Disorders of Glycosylation/diagnosis ; Congenital Disorders of Glycosylation/metabolism ; Glycoproteins/genetics ; Glycoproteins/metabolism ; Homozygote ; Lysosomes/metabolism ; Lysosomes/pathology ; Mutation
    Chemical Substances Glycoproteins
    Language English
    Publishing date 2023-04-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2413336-X
    ISSN 1756-0500 ; 1756-0500
    ISSN (online) 1756-0500
    ISSN 1756-0500
    DOI 10.1186/s13104-023-06314-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.

    Zaki, Maha S / Abdel-Ghafar, Sherif F / Abdel-Hamid, Mohamed S

    Journal of human genetics

    2023  Volume 69, Issue 2, Page(s) 79–84

    Abstract: Pontocerebellar hypoplasia (PCH) is a rare heterogeneous neurodegenerative disorder affecting the pons and cerebellum and is currently classified into 17 types (PCH1-PCH17). PCH1 is distinguishable from other types by the association of spinal motor ... ...

    Abstract Pontocerebellar hypoplasia (PCH) is a rare heterogeneous neurodegenerative disorder affecting the pons and cerebellum and is currently classified into 17 types (PCH1-PCH17). PCH1 is distinguishable from other types by the association of spinal motor neuron dysfunction. Based on the underlying genetic etiology, PCH1 is further classified into 6 different subtypes (PCH1 A-F). Of them, PCH type 1C is caused by pathogenic variants in EXOSC8 gene and so far, only four families have been described in the literature. In this study, we report a new patient with PCH1 who proved by whole-exome sequencing to harbor a novel homozygous missense variant in the splice region of EXOSC8 gene (c.238 G > A; p.Val80Ile). Studying mRNA of the patient confirmed that this variant results in skipping of exon 5 of the gene and early protein truncation. Our patient presented with the main clinical findings of PCH type 1C including psychomotor retardation, spasticity, spinal muscle atrophy, and respiratory problems. However, unlike most of the reported cases, he did not develop hearing or visual impairment and displayed a longer survival. In addition, our patient had dysmorphic facies, nystagmus, congenital esotropia and contractures which were infrequently described in patients with EXOSC8. Diaphragmatic hernia, dilated lateral ventricles, hypoplastic temporal lobes, and thinning of the brain stem were additional new findings noted in our patient. This study presents the fifth family with this extremely rare type of PCH and expands the associated clinical and brain imaging findings.
    MeSH term(s) Male ; Humans ; Mutation ; Cerebellar Diseases/diagnostic imaging ; Cerebellar Diseases/genetics ; Cerebellar Diseases/pathology ; Cerebellum/pathology ; Exons/genetics ; RNA-Binding Proteins/genetics ; Exosome Multienzyme Ribonuclease Complex/genetics
    Chemical Substances EXOSC8 protein, human (EC 3.1.-) ; RNA-Binding Proteins ; Exosome Multienzyme Ribonuclease Complex (EC 3.1.-)
    Language English
    Publishing date 2023-11-29
    Publishing country England
    Document type Journal Article
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-023-01207-4
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  3. Article ; Online: Delineating the phenotype of PNPLA8-related mitochondriopathies.

    Abdel-Hamid, Mohamed S / Abdel-Salam, Ghada M H / Abdel-Ghafar, Sherif F / Zaki, Maha S

    Clinical genetics

    2023  Volume 105, Issue 1, Page(s) 92–98

    Abstract: Pathogenic variants in PNPLA8 have been described either with congenital onset displaying congenital microcephaly, early onset epileptic encephalopathy and early lethality or childhood neurodegeneration with progressive microcephaly. Moreover, a ... ...

    Abstract Pathogenic variants in PNPLA8 have been described either with congenital onset displaying congenital microcephaly, early onset epileptic encephalopathy and early lethality or childhood neurodegeneration with progressive microcephaly. Moreover, a phenotype comprising adulthood onset cerebellar ataxia and peripheral neuropathy was also reported. To our knowledge, only six patients with biallelic variants in PNPLA8 have been reported so far. Here, we report the clinical and molecular characterizations of three additional patients in whom exome sequencing identified a loss of function variant (c.1231C>T, p.Arg411Ter) in Family I and a missense variant (c.1559T>A, p.Val520Asp) in Family II in PNPLA8. Patient 1 presented with the congenital form of the disease while Patients 2 and 3 showed progressive microcephaly, infantile onset seizures, progressive cortical atrophy, white matter loss, bilateral degeneration of basal ganglia, and cystic encephalomalacia. Therefore, our results add the infantile onset as a new distinct phenotype of the disease and suggest that the site of the variant rather than its type is strongly correlated with the disease onset. In addition, these conditions demonstrate some overlapping features representing a spectrum with clinical features always aligning with different age of onset.
    MeSH term(s) Humans ; Adult ; Child ; Microcephaly/genetics ; Phenotype ; Cerebellar Ataxia/genetics ; Mutation, Missense ; Basal Ganglia
    Language English
    Publishing date 2023-09-06
    Publishing country Denmark
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14421
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    Zs.A 413: Show issues Location:
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  4. Article ; Online: Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.

    Sharaf-Eldin, Wessam E / Issa, Mahmoud Y / Zaki, Maha S / Kilany, Ayman / Fayez, Alaaeldin G

    Journal, genetic engineering & biotechnology

    2022  Volume 20, Issue 1, Page(s) 44

    Abstract: Background: Methyl CpG binding protein 2 (MeCP2) is essential for the normal function of mature neurons. Mutations in the MECP2 gene are the main cause of Rett syndrome (RTT). Gene mutations have been identified throughout the gene and the mutation ... ...

    Abstract Background: Methyl CpG binding protein 2 (MeCP2) is essential for the normal function of mature neurons. Mutations in the MECP2 gene are the main cause of Rett syndrome (RTT). Gene mutations have been identified throughout the gene and the mutation effect is mainly correlated with its type and location.
    Methods: In this study, a series of in silico algorithms were applied for analyzing the functional consequences of 3 novel gene missense mutations (D121A, S359Y, and P403S) and a rarely reported one with suspicious effect (R133H) on RettBASE. Besides, a ROC curve analysis was performed to investigate the critical factors affecting variant pathogenicity.
    Results: (1) The ROC curve analysis for a retrieved set of MeCP2 variants showed that physicochemical characters do not significantly affect variant pathogenicity; (2) PREM PDI tool revealed that both D121A and R133H mainly contribute to disease progression via reducing MeCP2 affinity to DNA; (3) GPS v5.0 software indicated that P403S may correlate with altered protein phosphorylation; however, no defective protein interaction has been already documented. (4) The applied computational algorithms failed to explore any informative pathogenic mechanism for the S359Y variant.
    Conclusion: The conducted approach might provide an efficient prediction model for the effect of MECP2 variants that are located in MBD and CTD.
    Language English
    Publishing date 2022-03-11
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2637420-1
    ISSN 2090-5920 ; 1687-157X ; 2090-5920
    ISSN (online) 2090-5920
    ISSN 1687-157X ; 2090-5920
    DOI 10.1186/s43141-022-00305-8
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  5. Article ; Online: An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.

    Sabry, Sahar / Issa, Mahmoud Y / Abdel-Hamid, Mohamed S / Eissa, Noura R / Abdel-Ghafar, Sherif F / Ibrahim, Mona M / Zaki, Maha S

    Molecular biology reports

    2023  Volume 50, Issue 8, Page(s) 6373–6379

    Abstract: Background: Congenital muscular dystrophies (CMDs) result from genetically inherited defects in the biosynthesis and/or the posttranslational modification (glycosylation) of laminin-α2 and α-dystroglycan (α-DG), respectively. The interaction between ... ...

    Abstract Background: Congenital muscular dystrophies (CMDs) result from genetically inherited defects in the biosynthesis and/or the posttranslational modification (glycosylation) of laminin-α2 and α-dystroglycan (α-DG), respectively. The interaction between both proteins is responsible for the stability and integrity of the muscle cell. We aimed to study the expression profiles of both proteins in two classes of CMDs.
    Subjects and methods: Whole-exome sequencing (WES) was done for four patients with neuromuscular manifestations. The expression of core α-DG and laminin-α2 subunit in skin fibroblasts and MCF-7 cells was assessed by western blot.
    Results: WES revealed two cases with nonsense mutations; c.2938G > T and c.4348 C > T, in LAMA2 encodes laminin-α2. It revealed also two cases with mutations in POMGNT1 encode protein O-mannose beta-1,2-N-acetylglucosaminyltransferase mutations. One patient had a missense mutation c.1325G > A, and the other had a synonymous variant c.636 C > T. Immunodetection of core α-DG in skin fibroblasts revealed the expression of truncated forms of core α-DG accompanied by reduced expression of laminin-α2 in POMGNT1-CMD patients and one patient with LAMA2-CMD. One patient with LAMA2-CMD had overexpression of laminin-α2 and expression of a low level of an abnormal form of increased molecular weight core α-DG. MCF-7 cells showed truncated forms of core α-CDG with an absent laminin-α2.
    Conclusion: A correlation between the expression pattern/level of core α-DG and laminin-α2 could be found in patients with different types of CMD.
    MeSH term(s) Humans ; Dystroglycans/genetics ; Dystroglycans/metabolism ; Fibroblasts/metabolism ; Laminin/genetics ; Muscular Dystrophies/genetics ; Muscular Dystrophies/complications ; Muscular Dystrophies/metabolism ; Mutation/genetics
    Chemical Substances Dystroglycans (146888-27-9) ; Laminin ; laminin alpha 2
    Language English
    Publishing date 2023-06-15
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 186544-4
    ISSN 1573-4978 ; 0301-4851
    ISSN (online) 1573-4978
    ISSN 0301-4851
    DOI 10.1007/s11033-023-08500-7
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    Zs.A 1140: Show issues Location:
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  6. Article ; Online: Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

    Issa, Mahmoud Y / Hafez, Mona A / Mounir, Samir M / Abdel Ghafar, Sherif F / Zaki, Maha S / Abdel-Hamid, Mohamed S

    American journal of medical genetics. Part A

    2023  Volume 194, Issue 2, Page(s) 226–232

    Abstract: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) and PEHO-like syndromes are very rare infantile disorders characterized by profound intellectual disability, hypotonia, convulsions, optic, and progressive brain atrophy. ... ...

    Abstract Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) and PEHO-like syndromes are very rare infantile disorders characterized by profound intellectual disability, hypotonia, convulsions, optic, and progressive brain atrophy. Many causative genes for PEHO and PEHO-like syndromes have been identified including CCDC88A. So far, only five patients from two unrelated families with biallelic CCDC88A variants have been reported in the literature. Herein, we describe a new family from Egypt with a lethal epileptic encephalopathy. Our patient was the youngest child born to a highly consanguineous couple and had a family history of five deceased sibs with the same condition. She presented with postnatal microcephaly, poor visual responsiveness, and epilepsy. Her brain MRI showed abnormal cortical gyration with failure of opercularization of the insula, hypogenesis of corpus callosum, colpocephaly, reduced white matter, hypoplastic vermis, and brain stem. Whole exome sequencing identified a new homozygous frameshift variant in CCDC88A gene (c.1795_1798delACAA, p.Thr599ValfsTer4). Our study presents the third reported family with this extremely rare disorder. We also reviewed all described cases to better refine the phenotypic spectrum associated with biallelic loss of function variants in the CCDC88A gene.
    MeSH term(s) Humans ; Child ; Female ; Spasms, Infantile/genetics ; Brain Edema/genetics ; Optic Atrophy/genetics ; Syndrome ; Microfilament Proteins/genetics ; Vesicular Transport Proteins/genetics ; Neurodegenerative Diseases
    Chemical Substances CCDC88A protein, human ; Microfilament Proteins ; Vesicular Transport Proteins
    Language English
    Publishing date 2023-10-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63425
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  7. Article ; Online: Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.

    Elbendary, Hasnaa M / Marafi, Dana / Saad, Ahmed K / Elhossini, Rasha / Duan, Ruizhi / Rafat, Karima / Jhangiani, Shalini N / Gibbs, Richard A / Pehlivan, Davut / Calame, Daniel G / Posey, Jennifer E / Lupski, James R / Zaki, Maha S

    Clinical genetics

    2023  Volume 104, Issue 3, Page(s) 344–349

    Abstract: Pathogenic biallelic variants in LSS are associated with three Mendelian rare disease traits including congenital cataract type 44, autosomal recessive hypotrichosis type 14, and alopecia-intellectual disability syndrome type 4 (APMR4). We performed trio ...

    Abstract Pathogenic biallelic variants in LSS are associated with three Mendelian rare disease traits including congenital cataract type 44, autosomal recessive hypotrichosis type 14, and alopecia-intellectual disability syndrome type 4 (APMR4). We performed trio research exome sequencing on a family with a four-year-old male with global developmental delay, epilepsy and striking alopecia, and identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variant alleles. Rare features associated with APMR4 such as cryptorchidism, micropenis, mild cortical brain atrophy and thin corpus callosum were detected. Previously unreported APMR4 findings including cerebellar involvement in the form of unsteady ataxic gait, small vermis with prominent folia, were noted. A review of all reported variants to date in 29 families with LSS-related phenotypes showed an emerging genotype-phenotype correlation. Our report potentially expands LSS-related phenotypic spectrum and highlights the importance of performing brain imaging in LSS-related conditions.
    MeSH term(s) Male ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Mutation ; Rare Diseases ; Alopecia/diagnosis ; Alopecia/genetics ; Phenotype ; Syndrome
    Language English
    Publishing date 2023-05-09
    Publishing country Denmark
    Document type Case Reports ; Review ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14348
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  8. Article ; Online: A Novel Homozygous

    Kaiyrzhanov, Rauan / Zaki, Maha S / Maroofian, Reza / Dominik, Natalia / Rad, Aboulfazl / Vona, Barbara / Houlden, Henry

    Movement disorders clinical practice

    2021  Volume 8, Issue 7, Page(s) 1140–1143

    Language English
    Publishing date 2021-07-31
    Publishing country United States
    Document type Journal Article
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13310
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  9. Article ; Online: Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

    van Wegberg, Annemiek M J / Trefz, Friedrich / Gizewska, Maria / Ahmed, Sibtain / Chabraoui, Layachi / Zaki, Maha S / Maillot, François / van Spronsen, Francjan J

    The Journal of pediatrics

    2021  Volume 239, Page(s) 231–234.e2

    Abstract: Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and ... ...

    Abstract Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.
    MeSH term(s) Adolescent ; Adult ; Child ; Child, Preschool ; Delayed Diagnosis/statistics & numerical data ; Emigrants and Immigrants ; Female ; Global Health ; Health Care Surveys ; Health Policy ; Health Services Accessibility/organization & administration ; Health Services Accessibility/statistics & numerical data ; Humans ; Infant ; Infant, Newborn ; Male ; Neonatal Screening/organization & administration ; Neonatal Screening/trends ; Phenylketonurias/diagnosis ; Young Adult
    Language English
    Publishing date 2021-08-30
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2021.08.070
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  10. Article ; Online: The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

    Elkhateeb, Nour / Issa, Mahmoud Y / Elbendary, Hasnaa M / Elnaggar, Walaa / Ramadan, Areef / Rafat, Karima / Kamel, Mona / Abdel-Ghafar, Sherif F / Amer, Fawzia / Hassaan, Hebatallah M / Trunzo, Roberta / Pereira, Catarina / Abdel-Hamid, Mohamed S / D'Arco, Felice / Bauer, Peter / Bertoli-Avella, Aida M / Girgis, Marian / Gleeson, Joseph G / Zaki, Maha S /
    Selim, Laila

    Clinical genetics

    2024  Volume 105, Issue 5, Page(s) 510–522

    Abstract: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes ... ...

    Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes implicated in various pathways and mechanisms. We retrospectively studied the clinical and genetic data of patients with genetic DEE who presented at two tertiary centers in Egypt over a 10-year period. Exome sequencing was used for genetic testing. We report 74 patients from 63 unrelated Egyptian families, with a high rate of consanguinity (58%). The most common seizure type was generalized tonic-clonic (58%) and multiple seizure types were common (55%). The most common epilepsy syndrome was early infantile DEE (50%). All patients showed variable degrees of developmental impairment. Microcephaly, hypotonia, ophthalmological involvement and neuroimaging abnormalities were common. Eighteen novel variants were identified and the phenotypes of five DEE genes were expanded with novel phenotype-genotype associations. Obtaining a genetic diagnosis had implications on epilepsy management in 17 patients with variants in 12 genes. In this study, we expand the phenotype and genotype spectrum of DEE in a large single ethnic cohort of patients. Reaching a genetic diagnosis guided precision management of epilepsy in a significant proportion of patients.
    MeSH term(s) Child ; Humans ; Egypt/epidemiology ; Retrospective Studies ; Epilepsy/diagnosis ; Epilepsy, Generalized ; Seizures/genetics ; Seizures/complications ; Phenotype
    Language English
    Publishing date 2024-01-14
    Publishing country Denmark
    Document type Journal Article
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14481
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