Schimke XLID syndrome results from a deletion in BCAP31.

American Journal of Medical Genetics. Part a
Raymond J LouieRoger E Stevenson

Abstract

A family with three affected males and a second family with a single affected male with intellectual disability, microcephaly, ophthalmoplegia, deafness, and Involuntary limb movements were reported by Schimke and Associates in 1984. The affected males with Schimke X-linked intellectual disability (XLID) syndrome (OMIM# 312840) had a similar facial appearance with deep-set eyes, downslanting palpebral fissures, hypotelorism, narrow nose and alae nasi, cupped ears and spacing of the teeth. Two mothers had mild hearing loss but no other manifestations of the disorder. The authors considered the disorder to be distinctive and likely X-linked. Whole genome sequencing in the single affected male available and the three carrier females from one of the families with Schimke XLID syndrome identified a 2 bp deletion in the BCAP31 gene. During the past decade, pathogenic alterations of the BCAP31 gene have been associated with deafness, dystonia, and central hypomyelination, an XLID condition given the eponym DDCH syndrome. A comparison of clinical findings in Schimke XLID syndrome and DDCH syndrome shows them to be the same clinical entity. The BCAP31 protein functions in endoplasmic reticulum-associated degradation to promote ubiquitin...Continue Reading

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Mar 21, 2017·American Journal of Medical Genetics. Part a·Raymond J LouieMichael J Friez
Mar 24, 2017·American Journal of Medical Genetics. Part a·Saleh AlbanyanSaadet Mercimek-Mahmutoglu
Mar 24, 2017·Scientific Reports·Kunwei NiuBing Wang
Apr 27, 2018·American Journal of Medical Genetics. Part a·Giovanni NeriRoger E Stevenson
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Jul 23, 2019·European Journal of Medical Genetics·Berardo RinaldiThomy de Ravel

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Citations

May 1, 2021·Biochimie·Esben M Quistgaard

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