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Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)

✍ Scribed by Delphine Trochet; Loïc de Pontual; Maria Helena Estêvao; Yves Mathieu; Arnold Munnich; J. Feingold; Christo Goridis; Stanislas Lyonnet; Jeanne Amiel

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
495 KB
Volume
29
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

📜 SIMILAR VOLUMES

Parental origin and somatic mosaicism of
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome
✍ Sara Parodi; Tiziana Bachetti; Francesca Lantieri; Marco Di Duca; Giuseppe Santa 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB

## Communicated by Michel Goossens Heterozygous polyalanine repeat expansions of PHOX2B have been associated with Congenital Central Hypoventilation Syndrome, a rare neurocristopathy characterized by absence of adequate control of respiration during sleep. Here we report a PHOX2B mutational screen