Schimke XLID syndrome results from a deletion in BCAP31

Autor: Roger E. Stevenson, Cindy Skinner, Debra L. Collins, Michael J. Friez, Charles E. Schwartz, Raymond J. Louie
Rok vydání: 2020
Předmět:
Zdroj: American Journal of Medical Genetics Part A. 182:2168-2174
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.61755
Popis: 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 ubiquitination and destruction of misfolded proteins.
Databáze: OpenAIRE
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