Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.

Background & objectives: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. Methods: Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA. Female partners (n=5) and healthy controls (n=32) were also screened. Results: Three potential regulatory CFTR gene variants (c.1540A>G, c.2694T>G and c.4521G>A) were detected along with IVS8-5T mutation in three infertile males with CBAVD-URA. Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). The CFTR gene mutation screening may be offered to CBAVD-URA men and their female partners undergoing ICSI. Further studies need to be done in a large sample to confirm the findings.

Arrays to detect Erring Factors of Endometrial Origin in Endometriosis.

Endometriosis is an estrogen-regulated chronic inflammatory disease, characterized by the presence and growth of endometrium-like tissue in extrauterine locations. Its prevalence is 6 to 10% of women in the general population, and 35 to 40% of women with pain and/or infertility. Endometriosis is manifested in different forms, of which peritoneal endometriosis, rectovaginal endometriosis and ovarian endometriosis are most common. Several investigations have been conducted to investigate the genetic basis of endometriosis. However, these studies have been unsuccessful in identifying robust genetic variants associated with endometriosis. On the contrary, the advent of whole genome cDNA microarray approach has allowed for the identification of genes that display modulation in their expression in an endometriotic tissue. Several biological pathways involved in the pathogenesis of endometriosis have been identified. This review article compiles the inferences drawn from high throughput investigations of endometriotic tissue.