{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:34:46Z","timestamp":1780565686877,"version":"3.54.1"},"reference-count":11,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T00:00:00Z","timestamp":1565136000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aym\u00e9\u2010Gripp 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 <jats:italic>MAF<\/jats:italic>. To date, less than 20 cases have been reported, the majority having de novo mutations. Here, we report a patient with classical features of Aym\u00e9\u2010Gripp syndrome who inherited a <jats:italic>MAF<\/jats:italic> variant, c.206C&gt;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 <jats:italic>MAF<\/jats:italic> 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 <jats:italic>MAF<\/jats:italic> variants and offer further support for the relationship between these variants and late manifestations of renal disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.61299","type":"journal-article","created":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T12:45:37Z","timestamp":1565181937000},"page":"2233-2236","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Maternally inherited <i>MAF<\/i> variant associated with variable expression of Aym\u00e9\u2010Gripp syndrome"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9026-7002","authenticated-orcid":false,"given":"Ebba","family":"Alkhunaizi","sequence":"first","affiliation":[{"name":"Department of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert K.","family":"Koenekoop","sequence":"additional","affiliation":[{"name":"McGill Ocular Genetics Centre McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Saint\u2010Martin","sequence":"additional","affiliation":[{"name":"Department of Radiology, Montreal Children's Hospital McGill University Health Center  Montreal Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Russell","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics McGill University Health Centre  Montreal Quebec 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