Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.

ABSTRACT:

Background

Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities.

Methods

The present study investigated clinical and molecular characterization of three consanguineous families (A, B, C) segregating two different forms of autosomal recessive congenital ichthyosis (ARCI). Linkage in three consanguineous families (A, B, C) segregating two different forms of ARCI was searched by typing microsatellite and single nucleotide polymorphism marker analysis. Sequencing of the two genes TGM1 and ALOXE3 was performed by the dideoxy chain termination method.

Results

Genome-wide linkage analysis established link

SUBMITTER: Ullah R 

PROVIDER: S-EPMC5090260 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature