A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy
Copyright policy )A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy (ALD; MIM #300100) is a neurodegenerative disorder caused by mutations in the ABCD1 adrenoleukodystrophy protein gene. The ABCD1 gene mutations have been reported by laboratories in China and Japan, but not in Korea. This case report describes a Korean boy diagnosed with X-ALD. Direct sequencing for the ABCD1 gene in this boy and his mother detected Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). This missense variant was novel and predicted to be possibly damaging by the PolyPhen and SIFT prediction software. Moreover, this is the first report in Korean.
- Inje University Korea (Republic of)
- Asan Medical Center Korea (Republic of)
Male, Base Sequence, DNA Mutational Analysis, Mutation, Missense, Brain, Exons, ATP Binding Cassette Transporter, Subfamily D, Member 1, Magnetic Resonance Imaging, Fatal Outcome, Amino Acid Substitution, Asian People, Republic of Korea, Humans, ATP-Binding Cassette Transporters, Female, Adrenoleukodystrophy, Child, DNA Primers
Male, Base Sequence, DNA Mutational Analysis, Mutation, Missense, Brain, Exons, ATP Binding Cassette Transporter, Subfamily D, Member 1, Magnetic Resonance Imaging, Fatal Outcome, Amino Acid Substitution, Asian People, Republic of Korea, Humans, ATP-Binding Cassette Transporters, Female, Adrenoleukodystrophy, Child, DNA Primers
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