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Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.
- Source :
-
American journal of medical genetics [Am J Med Genet] 2002 Nov 22; Vol. 113 (2), pp. 178-82. - Publication Year :
- 2002
-
Abstract
- Congenital central hypoventilation syndrome (CCHS) is a rare syndrome characterized by failure of autonomic respiratory control, often presenting with other dysfunctions of the autonomic nervous system. Segregation analysis suggested a complex model of inheritance with a major locus involved. Disruption of the Rnx gene, a member of the Hox11 family of homeobox genes, in embryonic stem cells produced mice showing a phenotype similar to CCHS. Based on this observation, we have carried out mutation screening of the RNX gene in a set of 13 patients affected with CCHS, 2 of whom showing association with Hirschsprung disease. Single-strand conformational polymorphism analysis and direct sequencing of the whole coding portion of the RNX gene and of 1,311 bp of 5' flanking region were performed. No sequence variant was identified, with the exception of a private nucleotide change at position -874 bp from the ATG codon in two siblings affected with isolated CCHS. A functional test, performed by using the luciferase gene reporter system, has not shown any significant difference in the activity of the promoter region carrying this latter nucleotide change with respect to the wild-type allele. We conclude that RNX, and presumably its expression, are not altered in our index cases of CCHS.<br /> (Copyright 2002 Wiley-Liss, Inc.)
- Subjects :
- Animals
DNA chemistry
DNA genetics
DNA Mutational Analysis
Female
Gene Frequency
Humans
Luciferases genetics
Luciferases metabolism
Male
Mice
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Proto-Oncogene Proteins
Recombinant Fusion Proteins genetics
Recombinant Fusion Proteins metabolism
Sleep Apnea, Central congenital
Tumor Cells, Cultured
Homeodomain Proteins genetics
Oncogene Proteins genetics
Sleep Apnea, Central genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0148-7299
- Volume :
- 113
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 12407709
- Full Text :
- https://doi.org/10.1002/ajmg.10746