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Title: Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease
Authors: Gunadi
Ryantono, Fiko
Sethi, Raman 
Kalim, Alvin Santoso
Imelda, Priscillia
Melati, Devy
Simanjaya, Susan
Widitjiarso, William
Pitaka, Ririd Tri
Arfian, Nur
Iskandar, Kristy
Makhmudi, Akhmad
Lai, Poh San
Keywords: Science & Technology
Life Sciences & Biomedicine
Medicine, Research & Experimental
Pharmacology & Pharmacy
Research & Experimental Medicine
Damaging effect on protein function
deleterious conservation score
founder effect
Hirschsprung disease
semaphorin 3C
pathogenic variant
Issue Date: 1-Feb-2021
Citation: Gunadi, Ryantono, Fiko, Sethi, Raman, Marcellus, Kalim, Alvin Santoso, Imelda, Priscillia, Melati, Devy, Simanjaya, Susan, Widitjiarso, William, Pitaka, Ririd Tri, Arfian, Nur, Iskandar, Kristy, Makhmudi, Akhmad, Lai, Poh San (2021-02-01). Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease. JOURNAL OF INTERNATIONAL MEDICAL RESEARCH 49 (2). ScholarBank@NUS Repository.
Abstract: Objective: Cluster genes, specifically the class 3 semaphorins (SEMA3) including SEMA3C, have been associated with the development of Hirschsprung disease (HSCR) in Caucasian populations. We aimed to screen for rare and common variants in SEMA3C in Indonesian patients with HSCR. Methods: In this prospective clinical study, we analyzed SEMA3C gene variants in 55 patients with HSCR through DNA sequencing and bioinformatics analyses. Results: Two variants in SEMA3C were found: p.Val337Met (rs1527482) and p.Val579 = (rs2272351). The rare variant rs1527482 (A) was significantly overrepresented in our HSCR patients (9.1%) compared with South Asian controls in the 1000 Genomes (4.7%) and Exome Aggregation Consortium (ExAC; 3.5%) databases. Our analysis using bioinformatics tools predicted this variant to be evolutionarily conserved and damaging to SEMA3C protein function. Although the frequency of the other variant, rs2272351 (G), also differed significantly in Indonesian patients with HSCR (27.3%) from that in South Asian controls in 1000 Genomes (6.2%) and ExAC (4.6%), it is a synonymous variant and not likely to affect protein function. Conclusions: This is the first comprehensive report of SEMA3C screening in patients of Asian ancestry with HSCR and identifies rs1527482 as a possible disease risk allele in this population.
ISSN: 0300-0605,1473-2300
DOI: 10.1177/0300060520987789
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