Schimke XLID syndrome results from a deletion in BCAP31.
Am J Med Genet A
; 182(9): 2168-2174, 2020 09.
Article
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| MEDLINE
| ID: mdl-32681719
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 ubiquitination and destruction of misfolded proteins.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
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Fenotipo
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Arteriosclerosis
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Embolia Pulmonar
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Eliminación de Gen
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Discapacidad Intelectual Ligada al Cromosoma X
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Enfermedades de Inmunodeficiencia Primaria
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Proteínas de la Membrana
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Mutación
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Síndrome Nefrótico
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
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Adult
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Estados Unidos