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Am J Med Genet A ; 194(1): 70-76, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37712597

RESUMO

Aymé-Gripp Syndrome (AGS) is an ultra-rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a pathogenic variant in MAF have been described to date. A significant effort is then required to expand the genotypic and phenotypic spectrum of this condition. In this paper, we report the peculiar case of a 6-year-old girl carrying a de novo missense pathogenic variant in MAF, being the first case reported to show a milder phenotype with no cataracts and deafness displayed. Furthermore, we performed a systematic review of previously published cases, focusing on clinical manifestation and genotype.


Assuntos
Perda Auditiva Neurossensorial , Deficiência Intelectual , Feminino , Humanos , Criança , Sequenciamento do Exoma , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Deficiência Intelectual/genética , Síndrome , Fenótipo
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