Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome. Issue 11 (7th August 2019)

• Record Type: Journal Article
• Authors: Alkhunaizi, Ebba; Koenekoop, Robert K.; Saint‐Martin, Christine; Russell, Laura
• Is Part Of: American journal of medical genetics. Volume 179:Issue 11(2019)
• Page Start: 2233
• Page End: 2236
• Publication Date: 2019-08-07
• Subjects: Aymé‐Gripp syndrome -- cataract -- hearing loss -- intellectual disability -- MAF -- variable expressivity; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61299
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: 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.