Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum

American Journal of Medical Genetics. Part a
Katherine G LangleySamantha A Schrier Vergano

Abstract

Intellectual disability (ID) is estimated to affect 1-3% of the general population and is a common reason for referrals to pediatric and adult geneticists, as well as neurologists. There are many genetic and non-genetic causes of ID; X-linked forms are identifiable through their characteristic inheritance pattern. Current testing methods have been able to identify over 100 genes on the X chromosome responsible for X-linked intellectual disability (XLID) syndromes. MED12 [MIM *300188] (mediator complex subunit 12) mutations have been linked to numerous XLID syndromes, including Lujan, FG, and Ohdo, and MED12 is included in many XLID panels. MED12 is located at Xq13.1 and its product has roles in transcriptional activation and repression. We describe two affected male siblings and their unaffected mother with a novel missense mutation in MED12, c.4147G>A (p.Ala1383Thr). The siblings share some features of Ohdo syndrome, including feeding difficulties, microcephaly, and speech delay. However, additional attributes such as hypertonia, eosinophilic esophagitis, penile chordee, and particular facial dysmorphisms depart sufficiently from individuals previously described such that they appear to represent a new and expanded phenotype. ...Continue Reading

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Citations

Jun 12, 2016·European Journal of Medical Genetics·Trine E PrescottAsbjørg Stray-Pedersen
Jun 18, 2016·American Journal of Medical Genetics. Part a·Paolo PronteraGiuseppe Merla
Jun 28, 2017·Current Allergy and Asthma Reports·Melanie A Ruffner, Jonathan M Spergel
Feb 8, 2019·Molecular Genetics & Genomic Medicine·Siddharth SrivastavaTao Wang
Apr 4, 2017·Human Molecular Genetics·Lise-Marie DonnioJean-Marc Egly
Nov 28, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·D L PollaA P M de Brouwer

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