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Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)
Author(s) -
Trochet Delphine,
de Pontual Loïc,
Estêvao Maria Helena,
Mathieu Yves,
Munnich Arnold,
Feingold J.,
Goridis Christo,
Lyonnet Stanislas,
Amiel Jeanne
Publication year - 2008
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20727
Subject(s) - congenital central hypoventilation syndrome , biology , allele , genetics , dominance (genetics) , mutation , phenotype , heterozygote advantage , inbreeding , gene , hypoventilation , respiratory system , anatomy , population , medicine , environmental health
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. © 2008 Wiley‐Liss, Inc.