Article
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
American journal of medical genetics. Part A - 1 Jul 2014
Barboza-Cerda María C, Wong Lee-Jun, Martínez-de-Villarreal Laura E, Zhang Victor Wei, Déctor Miguel A
Abstract excerpt
Mutations in the Emopamil-binding protein (EBP) gene cause X-linked dominant chondrodysplasia punctata 2 (CDPX2), a disorder in which at least 95% of liveborn individuals are female and male intrauterine lethality is assumed. Several affected males with mutations in EBP have been reported. These males exhibit a phenotype similar to CDPX2 due to either somatic mosaicism or a 47, XXY karyotype in association with a...
Topics
- Chondrodysplasia Punctata
- Diagnosis, Differential
- Exome
- Genetic Association Studies
- Genetic Diseases, X-Linked
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Steroid Isomerases