Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
Clin Genet
; 87(2): 141-7, 2015 Feb.
Article
em En
| MEDLINE
| ID: mdl-24597975
ABSTRACT
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy. Recently, loss-of-function mutations in BCAP31 were reported in association with severe developmental delay, deafness and dystonia. We characterized the break points in eight patients with deletions of SLC6A8, BCAP31 and/or ABCD1 and studied the genotype-phenotype correlations. The phenotype in patients with contiguous gene deletions involving BCAP31 overlaps with the phenotype of isolated BCAP31 deficiency. Only deletions involving both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year, which might be explained by a synergistic effect. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency but without deafness. This might be caused by the disturbance of a regulatory element between SLC6A8 and BCAP31.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Colestase Intra-Hepática
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Transportadores de Cassetes de Ligação de ATP
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Proteínas da Membrana Plasmática de Transporte de Neurotransmissores
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Proteínas de Membrana
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Deficiência Intelectual
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Proteínas do Tecido Nervoso
Limite:
Adult
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Child
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Child, preschool
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Holanda