Journal of Hepatology and Gastrointestinal disorders
Open Access

Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran

Publications

• Research Article   
  Assessment and Documentation of Indigenous and a Novel Nonsense RET Variant in an Extended Hirschsprung Iranian Pedigree with Reduced Penetrance and Variable Expression
  Author(s): Sahereh Rahnavard, Maryam Eghbali, Hassan Saei, Roya Ghaffarnia, Amin Ardeshirdavani, Bahar Ashjaei and Maryam Abiri*
  
  Objective(s): Hirschsprung disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the gastrointestinal tract, resulting in intestinal obstruction. HSCR has two significant forms: sporadic and familial/syndromic. This study aimed to investigate the genetic basis of HSCR in an Iranian extended family to explore the causal mutations. Materials and Methods: DNA extraction was carried out from blood specimens of the twelve affected and unaffected family members. Then, Whole Exome Sequencing (WES) was performed for patients IV-V, and the identified variant was validated by Sanger sequencing in the proband IV-V. Finally, a segregation analysis was conducted on the parents and other affected and unaffected family members. Results: We have identified a novel heterozygous n.. View More»
  DOI: 10.35248/2475-3181.22.8.216

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