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.
Department of Pediatrics, Haeundae Paik Hospital, Inje University of Medicine, Busan, Republic of Korea.
Jeong A
JA
Park
Kyung Ran
KR
Jun
Sung-Hee
SH
Han
Gu-Hwan
GH
Kim
Han-Wook
HW
Yoo
Yun Jung
YJ
Hur
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000473:pathology; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D056910:Republic of Korea
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers