Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

Autor: van de Kamp, JM, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, SJM, Verheijen - Mancini, Grazia, Steinberg, SJ, Salomons, GS
Přispěvatelé: Human genetics, Laboratory Medicine, NCA - Brain mechanisms in health and disease, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Clinical Genetics
Rok vydání: 2015
Předmět:
Zdroj: van de Kamp, J M, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, S J M, Mancini, G M, Steinberg, S J & Salomons, G 2015, ' Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1 ', Clinical Genetics, vol. 87, no. 2, pp. 141-147 . https://doi.org/10.1111/cge.12355
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell Publishing Ltd
ISSN: 0009-9163
Popis: 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.
Databáze: OpenAIRE
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