CFTR gene variant for patients with congenital absence of vas deferens
Journal Article
·
· American Journal of Human Genetics
OSTI ID:237453
- Univ. of Toronto (Canada); and others
Obstructive azoospermia due to congenital absence of vas deferens is a prominent clinical feature among male patients with cystic fibrosis (CF). A similar autosomal recessive condition with no other CF manifestations is classified as congenital bilateral absence of vas deferens (CBAVD). Since 50%-64% of CBAVD patients have been found to be positive for at least one known CFTR mutation, it is believed that at least part of the CBAVD population represents an atypical form of CF affecting only the male reproductive system. This explanation is not completely satisfactory, however, because only {approximately}10% of CBAVD patients are found to carry known CF mutations on both chromosomes, even after exhaustive screening of the entire CFTR coding region. Here we present data to show that a previously known sequence variant in intron 8 of the CFTR gene is a specific and frequent mutation associated with CBAVD. 20 refs., 1 tab.
- OSTI ID:
- 237453
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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