Linkage analysis and molecular studies directed by chromosome abnormalities have been used to search for genes related to congenital heart defects. Exclusion mapping of a gene for autosomal dominant atrioventricular canal defect from the critical distal 21q and 8p regions has been obtained by linkage studies in two pedigrees. A search for deletions at 22q11 in 201 patients with conotruncal defects has showed hemizygosity only in those with dysmorphisms or malformations typical of DiGeorge and velo-cardio-facial syndromes. Haploinsufficiency at 22q11 was found also in patients with transposition of great arteries, either with an intact septum or ventricular septal defects. Deletion of the elastin gene was found in a series of 54 patients with Williams syndrome, supporting that elastin hemizygosity is pathogenetically related to this disorder.
|Number of pages||6|
|Journal||Bulletin of Molecular Biology and Medicine|
|Publication status||Published - 1995|
ASJC Scopus subject areas
- Clinical Biochemistry