Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

Pouria MohammadiElham Salehi SiavashaniMohammad Farid MohammadiAfshin BahramyNavid AlmadaniMasoud Garshasbi

Published in: Molecular genetics & genomic medicine (2021)

Other genes and factors responsible for 3MC syndrome occurrence are remained to be discovered. We believe further investigation of the genes in the lectin complement pathway is needed to be done for the identification of other causes of this disease.

Keyphrases

genome wide
bioinformatics analysis
case report
genome wide identification
genome wide analysis
risk assessment
copy number
dna methylation
transcription factor
gene expression