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Could the MED13 mutations manifest as a Kabuki ‐like syndrome?
Author(s) -
De Nardi Laura,
Faletra Flavio,
D'Adamo Adamo Pio,
Bianco Anna Monica Rosaria,
Athanasakis Emmanouil,
Bruno Irene,
Barbi Egidio
Publication year - 2021
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.61994
Subject(s) - hypotonia , autism spectrum disorder , missense mutation , intellectual disability , kabuki syndrome , exome sequencing , genetics , autism , neurodevelopmental disorder , biology , kabuki , mutation , gene , medicine , psychiatry , art , visual arts
MED13‐related disorder is a new neurodevelopmental disorder recently described in literature, which belongs to the group of CDK8‐kinase module genes‐associated conditions. It is characterized by variable intellectual disability and/or developmental delays, especially in language. Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), eye or vision problems, hypotonia, mild congenital hearth abnormalities and dysmorphisms have been described among individuals with MED13 mutations. We report the case of a 13‐year‐old girl who received a previous clinical diagnosis of Kabuki syndrome (KS) without mutations in classic KS genes. After a whole exome sequencing (WES) analysis a de novo missense mutation in MED13 (c.C979T; p.Pro327Ser) was found. This variant has been once described in literature as accountable for a novel neurodevelopmental disorder. The aim of this report is to improve clinical delineation of MED13‐related condition and to explore differences and similarities between KS spectrum and MED13‐related disorders.