Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens

Sharma, Neeraj; Acharya, Neema; Singh, Surjit; Singh, Meenu; Sharma, Ujjawal; Prasad, Rajendra

doi:10.1093/humrep/den500

Cited by 33 publications

(24 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our study it is documented delta F508 as the most common CFTR gene mutation in Indian population [12,25]. This observation supports the hypothesis that immigration patterns between US, Europe and the Indian subcontinent are contributing to the evolution of CF in the Indian subcontinent.…”

Section: Frequency Of Delta F508 Mutation In Indian Cf Populationsupporting

confidence: 89%

“…At PGIMER Chandigarh 100 cases of classical CF were diagnosed by us according to clinical criteria sweat testing and molecular diagnosis over the last 7 years out of which 50 were adult CF infertile males [12]. The incidence in migrant Indian population in USA has been estimated to be 1 in 40,000 [4] and in the UK between 1 in 10,000 to 12,000 [13].…”

Section: Prevalence and Clinical Manifestations Of Cf Diseasementioning

confidence: 99%

“…Congenital absence of vas deferens, as a distinct clinical entity with regard to CFTR mutations, has never been investigated in our population. We recently investigated the family history of infertility among CF subjects and characterized mutations in infertile members [12]. Molecular Genetics of CFTR Gene CF represents the first genetics disorder elucidated strictly by the process of positional cloning [11] succeeded in covering the CF region on long arm of chromosome 7 (7q31.2) by the chromosome walking and jumping.…”

Section: Prevalence and Clinical Manifestations Of Cf Diseasementioning

confidence: 99%

See 2 more Smart Citations

Molecular Basis of Cystic Fibrosis Disease: An Indian Perspective

Prasad

Sharma

Kaur³

2010

Ind J Clin Biochem

Self Cite

View full text Add to dashboard Cite

Cystic fibrosis is a common autosomal recessive disorder usually found in population of white Caucasian descent. Now it is well documented the presence of CF disease in India with the advancement of laboratory testing. As once it was thought non existence of this disease in our population. Most of the phenotype of CF disease was in accordance of western population. Genetic analysis of CFTR gene in Indian CF patients revealed that most common mutation was delta F508 mutation. However, it was less than Caucasian population. CFTR mutations are also a causative factor in the pathogenesis of male infertility due to obstructive azoospermia. There are two most common mutation viz. IVS8-T5 and delta F508 which are responsible for congenital absence of vas deferens in male infertility patients. Elevated levels of sweat chloride at two occasions along with the presence of two mutations in CFTR gene was gold standard method for diagnosis of CF disease. It is noteworthy here that due to magnitude of Indian population, the total CF disease load would be more than many European countries. Clinical data demonstrate the prevalence of both classical and genetic form of CF in India.

show abstract

Section: Frequency Of Delta F508 Mutation In Indian Cf Populationsupporting

confidence: 89%

Section: Prevalence and Clinical Manifestations Of Cf Diseasementioning

confidence: 99%

Section: Prevalence and Clinical Manifestations Of Cf Diseasementioning

confidence: 99%

See 1 more Smart Citation

Molecular Basis of Cystic Fibrosis Disease: An Indian Perspective

Prasad

Sharma

Kaur³

2010

Ind J Clin Biochem

Self Cite

View full text Add to dashboard Cite

show abstract

“…Strong linkage disequilibrium is evident among c.1210‐12T [5] and the Val allele of M470V polymorphism in CBAVD but not in general population (de Meeus et al., ). Studies in population from North India reported 25‐56% frequency of IVS‐9‐ c.1210‐12T [5] (Sachdeva, Saxena, Majumdar, Chadha, & Verma, ; Sharma, Singh, Kaur, Thapa, & Prasad, ; Sharma, Acharyam, et al., ). The ethnicity of the Indian population is quite heterogeneous with different geographical distribution.…”

Section: Introductionmentioning

confidence: 99%

The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens

et al. 2017

View full text Add to dashboard Cite

The aim of the study was to detect the frequency of the CFTR gene variants poly-T, TG repeats and c.1408A>G p.Met470Val (M470V) in Indian men with congenital bilateral absence of the vas deferens (CBAVD). Men diagnosed with CBAVD (n = 76), their female partners (n = 76) and healthy men from general population (n = 50) were recruited. Genomic DNA was isolated and the polymorphic regions of IVS9- c.1210-12T [5] and M470V were amplified using specific primers followed by Sanger's DNA sequencing. A statistically significant increase in the frequency of heterozygous IVS9- c.1210-12T [5] (39.4%) was observed in CBAVD men as compared to controls (14%). The allelic distribution of c.1210-12T [5], c.1210-12T [7] and c.1210-12T [9] in CBAVD men was 21%, 64.4% and 13% and that in healthy controls was 7%, 73% and 20% respectively. Longest TG repeat c.1210-34TG [13] was found in association with c.1210-12T [5] with an allelic frequency of 5.9% in CBAVD men. We found a significant association of c.1210-34TG [12]/c.1210-34TG [13] - c.1210-12[5] -V470 allele in CBAVD men. Twelve female partners harboured a heterozygous c.1210-12T [5] allele. The study emphasises the need to screen both partners for the polymorphisms M470V, poly-T, TG tract repeats in addition to population-specific known CFTR gene mutations.

show abstract

“…All patients with CAVD desiring to have children should undergo CFTR mutation testing, understanding that there are more uncommon mutations not covered by routine testing and novel mutations continue to be discovered (Mak et al 1999;Sharma et al 2009). CBAVD and CUAVD caused by a CFTR gene mutation are phenotypically identical to those unassociated with a CFTR gene mutation (McCallum et al 2001;Radpour et al 2008).…”

Section: Diagnosismentioning

confidence: 99%