Cytopenias and congenital anaemias

Gene: USP18

In 3 sibs, born of consanguineous Turkish parents (family A), with pseudo-TORCH syndrome-2 (MIM:617397), Meuwissen et al. (2016, PMID:27325888) identified a homozygous c.652C-T transition in exon 7 of the USP18 gene, resulting in a Q218X substitution. Sanger sequencing of the USP18 gene in 2 German sibs (family B) with a similar phenotype, previously reported by Knoblauch et al. (2003, PMID:12833411), identified a heterozygous Q218X mutation on 1 allele. Haplotype analysis of the region containing the Q218X mutation suggested a common ancestor between the 2 families and a founder effect.

Created: 11 May 2017, 11:35 a.m.

Comment on list classification: Added USP18 to panel based on March 2017 OMIM updates (association with Pseudo-TORCH syndrome 2, MIM:617397, which includes Thrombocytopenia phenotype. Kept rating as red until further evidence becomes available (currently the Turkish and German cases reported are from related individuals).

Created: 11 May 2017, 11:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 2, MIM:617397

Publications

• 27325888