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Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP‐A) patients with various combinations of mutation sites
Author(s) -
Maeda Tomoko,
Sato Kenji,
Minami Hironori,
Taguchi Hiroyasu,
Yoshikawa Kunihiko
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04094.x
Subject(s) - xeroderma pigmentosum , nonsense mutation , genetics , mutation , exon , biology , medicine , gene , missense mutation , dna repair
Almost all Japanese group A xeroderma pigmentosum (XP‐A) patients have nonsense and/or nonsense codon‐leading mutations in the XP group A (XPA) gene, and develop neurological abnormalities. Walking ability is one of the most important neuromuscular functions of the patients, because it determines their daily activities. We studied the correlation between the various combinations of mutations found by PCR‐RFLP in Japanese XP‐A patients and their chronological walking impairment. We classified these patients into six groups. Group I: A patient who was homozygous for the mutation at codon 116 in exon 3 (Type 1 mutation) could never walk unaided. Group III: Typical patients who were homozygous for the mutation at intron 3 (Type 2 mutation) could walk unaided till 7–16 years of age. Group V: Patients who were compound heterozygous for Type 2 mutation and for the mutation at codon 228 in exon 6 (Type 3 mutation) began to develop some walking difficulty at 5–13 years of age and became unable to walk at 25–28 years of age. Group VI: A patient who was homozygous for Type 3 mutation could walk unaided without any difficulty till the age of 21. The walking ability of group II and IV patients is not known yet.