Mutation analysis of LMX1B gene in nail-patella syndrome patients

被引：119

作者：

McIntosh, I

Dreyer, SD

Clough, MV

Dunston, JA

Eyaid, W

Roig, CM

Montgomery, T

Ala-Mello, S

Kaitila, I

Winterpacht, A

Zabel, B

Frydman, M

Cole, WG

Francomano, CA

Lee, B

机构：

[1] Johns Hopkins Univ, Inst Med Genet, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Predoctoral Training Program Human Genet, Baltimore, MD 21287 USA

[3] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[4] Natl Human Genome Res Inst, Med Genet Branch, NIH, Bethesda, MD USA

[5] Univ Newcastle, Dept Human Genet, Newcastle Upon Tyne, Tyne & Wear, England

[6] Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki, Finland

[7] Univ Mainz, Dept Pediat, Mainz, Germany

[8] Chaim Sheba Med Ctr, Inst Human Genet, IL-52621 Tel Hashomer, Israel

[9] Hosp Sick Children, Div Orthoped, Toronto, ON M5G 1X8, Canada

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1998年 / 63卷 / 06期

关键词：

D O I：

10.1086/302165

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploin-sufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.

引用

页码：1651 / 1658

页数：8

共 36 条

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