Journal of Hepatology and Gastrointestinal disorders
Open Access
ISSN: 2475-3181
ISSN: 2475-3181
Department of Pediatric Surgery, Tehran University of Medical Sciences, Tehran, Iran
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