Genotype–phenotype correlation of contiguous gene deletions of SLC6A8 , BCAP31 and ABCD1
Year: 2014
Type: article
Study design: Case Report
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.
Source: Clinical Genetics
DOI: 10.1111/cge.12355
Institutions: Amsterdam UMC Location Vrije Universiteit Amsterdam, MRC Holland (Netherlands), Mafraq Hospital, Boston Children's Hospital, Harvard University, Children's Hospital Central California, Kanagawa Children's Medical Center, Erasmus MC, Kennedy Krieger Institute, Johns Hopkins University, Johns Hopkins Medicine
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W1573308396