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

Shereen Georges GhoshLu WangMartin W BreussJoshua D GreenValentina StanleyXiaoxu YangDanica RossBryan J TraynorAmal M AlhashemMatloob AzamLaila SelimLaila BastakiHanan I ElbastawisySamia TemtamyMaha ZakiJoseph G Gleeson

Published in: Journal of medical genetics (2019)

The TMX2 c.500G>A allele associates with recessive microlissencephaly, and patients show no evidence of C9ORF72 expansions. TMX2 is the first PDI implicated in a recessive disease, suggesting a protein isomerisation defect in microlissencephaly.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
intellectual disability
chronic kidney disease
protein protein
prognostic factors
peritoneal dialysis