Mutation Details for c.4201dupG

cDNA Name c.4201dupG 
Protein Name p.Glu1401GlyfsX61 
Exon or Intron exon 26 
Other Details The above mutation was identified by SSCP analysis and characterized by direct DNA sequencing. The mutation was not found on 100 non-CF chromosomes. The patient is an infertile man with congenital bilateral absence of vas deferens. 
Contributors and Institutes
Sharma N - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Acharya N - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Singh SK - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Singh M - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Kaur G - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Prasad R - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  
Submitted Phenotype Details This is a case of 28 year old infertile male married for 5 years. His sweat chloride was 90 mEq/L, Testosterone- 405ng/dl, FSH- 3.9 mIU/ml, LH- 4.0mIU/ml, Urea- 27 mg/dl and Creatinine- 0.8mg/dl. Semen analysis demonstrated nil sperm count and FNAC revealed normal spermatogenesis. Transrectal ultrasound and abdominal ultrasonography showed no other urogenital malformation. Chest X-ray showed hyperinflation. On physical examination, congenital bilateral absence of vas deferens was reported (pers. corr. Prasad).  
Reference  

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The Database was last updated at Apr 25, 2011