Mapping of a further locus for X-linked craniofrontonasal syndrome

被引：17

作者：

Wieland, I

Jakubiczka, S

Muschke, P

Wolf, A

Gerlach, L

Krawczak, M

Wieacker, P

机构：

[1] Otto Von Guericke Univ, Inst Human Genet, D-39120 Magdeburg, Germany

[2] Otto Von Guericke Univ, Klin Kiefer & Gesichtschirurg, D-39120 Magdeburg, Germany

[3] Univ Kiel, Inst Med Informat & Stat, Kiel, Germany

来源：

CYTOGENETIC AND GENOME RESEARCH | 2002年 / 99卷 / 1-4期

关键词：

D O I：

10.1159/000071605

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Craniofrontonasal syndrome is a rare dysostosis syndrome with an unusual pattern of X-linked inheritance, because males are usually not or less severely affected than females. Previously, a CFNS locus has been localised in Xp22. We report on a haplotype analysis in a German CFNS family, mapping the CFNS locus to the pericentromeric region of the X chromosome. This discrepancy can be explained by locus heterogeneity. Furthermore, random X inactivation could be demonstrated in affected females. The most plausible interpretation for this unusual pattern of X-linked inheritance is metabolic interference. Consequently, we propose that the CFNS gene escapes X inactivation. Copyright (C) 2002 S. Karger AG, Basel.

引用

页码：285 / 288

页数：4