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

• Published in: Clinical genetics Vol. 87; no. 2; pp. 141 - 147
• Main Authors: 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.S.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.02.2015
• Subjects: Adrenoleukodystrophy - genetics; Adrenoleukodystrophy - mortality; Adrenoleukodystrophy - pathology; Adult; ATP Binding Cassette Transporter, Sub-Family D, Member 1; ATP-Binding Cassette Transporters - genetics; Brain Diseases, Metabolic, Inborn - genetics; Brain Diseases, Metabolic, Inborn - mortality; Brain Diseases, Metabolic, Inborn - pathology; Child; Child, Preschool; Cholestasis, Intrahepatic - genetics; Cholestasis, Intrahepatic - mortality; Cholestasis, Intrahepatic - pathology; clinical genetics; Creatine - deficiency; Creatine - genetics; creatine transporter deficiency; deletion; Developmental disabilities; Gene Deletion; Genetic Association Studies; Genetic disorders; Genotype & phenotype; Humans; Infant; Infant, Newborn; intellectual disability; Intellectual Disability - genetics; Intellectual Disability - mortality; Intellectual Disability - pathology; liver disease; Male; Membrane Proteins - genetics; Mental Retardation, X-Linked - genetics; Mental Retardation, X-Linked - mortality; Mental Retardation, X-Linked - pathology; metabolic disorders; Mutation; Nerve Tissue Proteins - genetics; neurology; Phenotype; Plasma Membrane Neurotransmitter Transport Proteins - deficiency; Plasma Membrane Neurotransmitter Transport Proteins - genetics; X-linked adrenoleukodystrophy; metabolic disorders; creatine transporter deficiency; liver disease; deletion; X-linked adrenoleukodystrophy; clinical genetics; intellectual disability; neurology

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 charac...