Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

被引：55

作者：

Legius, E ^{[1
]}

Schollen, E ^{[1
]}

Matthijs, G ^{[1
]}

Fryns, JP ^{[1
]}

机构：

[1] Ctr Human Genet, B-3000 Louvain, Belgium

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1998年 / 6卷 / 01期

关键词：

Noonan syndrome; cardio-facio syndrome; linkage analysis; chromosome; 12;

D O I：

10.1038/sj.ejhg.5200150

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Noonan syndrome (NS) is an autosomal dominant condition with facial dysmorphy, congenital cardiac defects and short stature. A gene for NS has previously been linked to a 14 cM region in 12q24.(2) We performed linkage analysis in a four generation Belgian family with NS in some individuals and cardio-facio-cutaneous (CFC) syndrome in others. Clinical data and linkage data in this family indicate that NS and CFC syndrome result from a variable expression of the same genetic defect. We report a maximum lod score of 4.43 at zero recombination for marker D12S84 in 12q24, A crossover in this pedigree narrows the candidate gene region for NS to a 5 cM interval between markers D12S84 acid D12S1341.

引用

页码：32 / 37

页数：6

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