一个大家族中努南/心面皮肤综合征的精细定位

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

作者信息

Legius E, Schollen E, Matthijs G, Fryns J P

机构信息

Center for Human Genetics, Leuven, Belgium.

出版信息

Eur J Hum Genet. 1998 Jan;6(1):32-7. doi: 10.1038/sj.ejhg.5200150.

DOI:10.1038/sj.ejhg.5200150

PMID:9781012

Abstract

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. 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 and D12S1341.

摘要

努南综合征（NS）是一种常染色体显性疾病，具有面部畸形、先天性心脏缺陷和身材矮小等症状。此前，一个与NS相关的基因已被定位到12号染色体长臂24区（12q24）一个14厘摩（cM）的区域。我们对一个四代比利时家族进行了连锁分析，家族中部分个体患有NS，部分患有心脏-颜面-皮肤综合征（CFC）。该家族的临床数据和连锁数据表明，NS和CFC综合征是由同一基因缺陷的可变表达引起的。我们报告，在12q24区域的标记D12S84处，零重组时最大对数优势分数（lod score）为4.43。此谱系中的一次交叉将NS的候选基因区域缩小至标记D12S84和D12S1341之间一个5 cM的区间。