A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Genes (Basel)
; 13(1)2021 12 30.
Article
em En
| MEDLINE
| ID: mdl-35052432
ABSTRACT
Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Here, we identified a novel variant in GEMIN4 (NM_015721exon2c.440A>Gp.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification. We comprehensively investigated the patients' clinical features, including brain imaging and electroencephalogram findings, and compared their phenotypic characteristics with those of previously reported cases. In silico prediction and structural modeling support that the p.His147Arg variant is pathogenic.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Antígenos de Histocompatibilidade Menor
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Ribonucleoproteínas Nucleares Pequenas
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Consanguinidade
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Transtornos do Neurodesenvolvimento
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article