Homozygous mutation of the PHOX2B gene in congenital central Hypoventilation syndrome (Ondine's curse)

被引：26

作者：

Trochet, Delphine ^{[1
]}

de Pontual, Loic ^{[1
]}

Estevo, Maria Helena ^{[3
]}

Mathieu, Yves ^{[1
]}

Munnich, Arnold ^{[1
,2
]}

Feingold, J. ^{[1
]}

Goridis, Christo ^{[4
]}

Lyonnet, Stanislas ^{[1
,2
]}

Amiel, Jeanne ^{[1
,2
]}

机构：

[1] Univ Paris 05, Dept Genet, AP HP, Hop Necker Enfants Malad, F-75743 Paris 15, France

[2] Hop Necker Enfants Malad, INSERM, U 781, Fac Med,AP HP, F-75743 Paris, France

[3] Hosp Pediat Coimbra, Lab Sono & Ventilacao, Coimbra, Portugal

[4] Ecole Normale Super, CNRS, UMR 8542, Dept Biol, Paris, France

来源：

HUMAN MUTATION | 2008年 / 29卷 / 05期

关键词：

PHOX2B; CCHS; homozygous alanine expansion;

D O I：

10.1002/humu.20727

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Homozygosity for a dominant allele is relatively rare and preferentially observed in communities with high inbreeding. According to the definition of true dominance, similar phenotypes should be observed in patients heterozygous and homozygous for a dominant mutation. However, the homozygous phenotype usually tends to be more severe than the heterozygous one. In these cases, the wild-type and mutant alleles are semi-dominant. Here we report a patient with a Congenital Central Hypoventilation Syndrome (CCHS) phenotype and homozygosity for a PHOX2B gene mutation leading to an alanine expansion shorter than the threshold hitherto observed in CCHS patients with a heterozygous mutation. This observation adds the concept of mutational threshold per se to the discussion about dominant and recessive alleles. (c) 2008 Wiley-Liss, Inc.

引用

页码：770 / 770

页数：1