Linked Life Data

18407552

Source:http://linkedlifedata.com/resource/pubmed/id/18407552

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-4-21
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1098-1004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
770
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
pubmed:affiliation
Université Paris 5-Descartes, INSERM U-781, AP-HP, Hôpital Necker-Enfant Malades, Paris, France.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't