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Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.

作者信息

Brites P, Motley A, Hogenhout E, Hettema E, Wijburg F, Heijmans H S, Tabak H F, Distel B, Wanders R J

机构信息

University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):306-8. doi: 10.1023/a:1005301112923.

DOI:10.1023/a:1005301112923
PMID:9686382
Abstract
摘要

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1
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.I型点状软骨发育不良的分子基础：38例患者中Leu-292终止突变的高频率
J Inherit Metab Dis. 1998 Jun;21(3):306-8. doi: 10.1023/a:1005301112923.
2
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.罗氏点状软骨发育不良 1 型：来自印度的 3 名患儿基因突变的报告。
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Congenital heart defects common in rhizomelic chondrodysplasia punctata.先天性心脏缺陷在点状软骨发育不全的近端股骨发育不全中很常见。
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Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.肢根型点状软骨发育不良，一种由过氧化物酶体蛋白导入受体Pex7p缺陷引起的过氧化物酶体生物发生障碍：一篇综述。
Neurochem Res. 1999 Apr;24(4):581-6. doi: 10.1023/a:1023957110171.
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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.人类PEX7编码过氧化物酶体PTS2受体，并与点状软骨发育不良相关。
Nat Genet. 1997 Apr;15(4):369-76. doi: 10.1038/ng0497-369.
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A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.一名患有肢根型点状软骨发育不良患者的PEX7基因发生新型无义突变。
J Hum Genet. 1999;44(2):123-5. doi: 10.1007/s100380050123.
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Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.鉴定一名伊朗 rhizomelic 软骨发育不全 punctata 型 1 患者 PEX7 基因的新型错义突变。
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Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.78例1型肢根型点状软骨发育不良患者PEX7基因的突变谱及突变等位基因的功能分析
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Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.肢根型点状软骨发育不良是由人类PEX7缺乏引起的，PEX7是酵母PTS2受体的同源物。
Nat Genet. 1997 Apr;15(4):381-4. doi: 10.1038/ng0497-381.

引用本文的文献

1
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.全外显子组测序揭示了导致1型点状软骨发育不良的不同种族PEX7突变的复合杂合性。
Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26.
2
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.肢根型点状软骨发育不良，一种由过氧化物酶体蛋白导入受体Pex7p缺陷引起的过氧化物酶体生物发生障碍：一篇综述。
Neurochem Res. 1999 Apr;24(4):581-6. doi: 10.1023/a:1023957110171.

本文引用的文献

1
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.肢根型点状软骨发育不良是由人类PEX7缺乏引起的，PEX7是酵母PTS2受体的同源物。
Nat Genet. 1997 Apr;15(4):381-4. doi: 10.1038/ng0497-381.
2
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.肢根型点状软骨发育不良是一种由无功能的PTS2受体引起的过氧化物酶体蛋白靶向疾病。
Nat Genet. 1997 Apr;15(4):377-80. doi: 10.1038/ng0497-377.
3
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
人类PEX7编码过氧化物酶体PTS2受体，并与点状软骨发育不良相关。
Nat Genet. 1997 Apr;15(4):369-76. doi: 10.1038/ng0497-369.
4
How proteins penetrate peroxisomes.蛋白质如何穿透过氧化物酶体。
Cell. 1995 Nov 17;83(4):525-8. doi: 10.1016/0092-8674(95)90091-8.
5
Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.点状软骨发育异常的近段型患者的遗传和生化异质性——一项互补研究
Hum Genet. 1992 Jun;89(4):439-44. doi: 10.1007/BF00194319.
6
Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.与植烷酸蓄积和缩醛磷脂合成缺陷相关的骨发育异常：一种可进行血浆置换治疗的过氧化物酶体疾病。
J Inherit Metab Dis. 1992;15(3):377-80. doi: 10.1007/BF02435981.