Unknown

Dataset Information

0

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

ABSTRACT: There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. Mutations in some of these genes, such as CERS3 with only two previous reports, are rare. In this study, we identified mutations in candidate genes in consanguineous families with ARCI with a next generation sequencing (NGS) array that incorporates 38 ichthyosis associated genes. We applied this sequencing array to DNA from 140 ichthyosis families with high prevalence of consanguinity. Among these patients we identified six distinct, previously unreported mutations in CERS3 in six Iranian families. These mutations in each family co-segregated with the ichthyosis phenotype. The patients demonstrated collodion membrane at birth, acrogeria, generalized scaling, and hyperlinearity of the palms and soles. The presence of a significant percentage of CERS3 mutations in our cohort depicts a marked difference between the etiology of ichthyoses in genetically poorly characterized regions and well-characterized western populations. Also, it shows that rare alleles are more prevalent in the gene pool of consanguineous populations and emphasizes the importance of these population studies for better understanding of ichthyosis pathogenesis.

SUBMITTER: Youssefian L 

PROVIDER: S-EPMC5643971 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Youssefian Leila L   Vahidnezhad Hassan H   Saeidian Amir Hossein AH   Sotoudeh Soheila S   Mahmoudi Hamidreza H   Daneshpazhooh Maryam M   Aghazadeh Nessa N   Adams Rebecca R   Ghanadan Alireza A   Zeinali Sirous S   Fortina Paolo P   Uitto Jouni J  

European journal of human genetics : EJHG 20170906 11

There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. Mutations in some of these genes, such as CERS3 with only two previous reports, are rare. In this study, we identified mutations in candidate genes in consanguineous families with ARCI with a next generation sequencing (NGS) array that incorporates 38 ichthyosis associated genes. We applied  ...[more]

Similar Datasets

Unknown Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
| S-EPMC3675029 | biostudies-literature
Unknown Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
| S-EPMC5473727 | biostudies-literature
Unknown Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.
| S-EPMC7005637 | biostudies-literature
Unknown Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
| S-EPMC3839340 | biostudies-other
Unknown Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
| S-EPMC5090260 | biostudies-literature
Unknown Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
| S-EPMC1715945 | biostudies-other
Unknown PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.
| S-EPMC9332298 | biostudies-literature
Unknown Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.
| S-EPMC7760754 | biostudies-literature
Unknown Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
| S-EPMC6915918 | biostudies-literature
Unknown Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.
| S-EPMC8645175 | biostudies-literature