Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

被引：15

作者：

Abe, Akiko ^{[1
]}

Nakamura, Kazuyuki ^{[1
]}

Kato, Mitsuhiro ^{[1
]}

Numakura, Chikahiko ^{[1
]}

Honma, Tomomi ^{[2
]}

Seiwa, Chizuru ^{[3
]}

Shirahata, Emi ^{[3
]}

Itoh, Aiko ^{[3
]}

Kishikawa, Yumiko ^{[1
]}

Hayasaka, Kiyoshi ^{[1
]}

机构：

[1] Yamagata Univ, Sch Med, Dept Pediat, Yamagata 9909585, Japan

[2] Yamagata Prefectural Shinjo Hosp, Dept Pediat, Yamagata, Japan

[3] Yamagata Med Rehabil Ctr Disabled Persons, Dept Pediat, Yamagata, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2010年 / 55卷 / 11期

关键词：

Charcot-Marie-Tooth disease type 1; Dejerine-Sottas disease; hereditary neuropathy with liability to pressure palsies; multiplex ligation-dependent probe amplification; peripheral myelin protein 22; DEPENDENT PROBE AMPLIFICATION; PERIPHERAL MYELIN; POINT MUTATION; PROTEIN; 22; HEREDITARY NEUROPATHY; PRESSURE PALSIES; INTERPHASE FISH; GENE; ASSOCIATION; LIABILITY;

D O I：

10.1038/jhg.2010.106

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a 3 1/3-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2 kb deletion spanning from intron 4 to 3'-region of PMP22, which was likely generated by nonhomologous end joining. Severely affected patients carrying a PMP22 deletion must be analyzed for the mutations of the other copy of PMP22. Journal of Human Genetics (2010) 55, 771-773; doi:10.1038/jhg.2010.106; published online 26 August 2010

引用

页码：771 / 773

页数：3

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