Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephaly.

ABSTRACT:

Background

Protein disulfide isomerase (PDI) proteins are part of the thioredoxin protein superfamily. PDIs are involved in the formation and rearrangement of disulfide bonds between cysteine residues during protein folding in the endoplasmic reticulum and are implicated in stress response pathways.

Methods

Eight children from four consanguineous families residing in distinct geographies within the Middle East and Central Asia were recruited for study. All probands showed structurally similar microcephaly with lissencephaly (microlissencephaly) brain malformations. DNA samples from each family underwent whole exome sequencing, assessment for repeat expansions and confirmatory segregation analysis.

Results

An identical homozygous variant in TMX2 (c.500G>A), enco

SUBMITTER: Ghosh SG 

PROVIDER: S-EPMC7405652 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature