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Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome
Author(s) -
Alkhunaizi Ebba,
Koenekoop Robert K.,
SaintMartin Christine,
Russell Laura
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61299
Subject(s) - proband , intellectual disability , sensorineural hearing loss , cataracts , phenocopy , phenotype , genetics , autism spectrum disorder , autism , disease , medicine , hearing loss , biology , mutation , audiology , psychiatry , gene
Aymé‐Gripp syndrome is an intellectual disability syndrome characterized by autism spectrum disorder, cataracts, sensorineural hearing loss, skeletal involvement, seizures, cardiac anomalies, and distinctive facial features. The condition is caused by pathogenic variants in MAF . To date, less than 20 cases have been reported, the majority having de novo mutations. Here, we report a patient with classical features of Aymé‐Gripp syndrome who inherited a MAF variant, c.206C>G (p.P69R), from a mother with normal intellectual function and normal hearing but with cataract and significant proteinuria. To the best of our knowledge, this is the first report of a patient who inherited a MAF causative variant from a parent with normal intellect. Although the syndrome typically has multiple malformations and intellectual disability, we suggest that a mild phenotype could exist. In addition, we suggest that the basal ganglia calcifications present in our proband could be a novel finding associated with MAF variants and offer further support for the relationship between these variants and late manifestations of renal disease.