Severe microcephaly

Gene: RUSC2

Red List (low evidence)

Comment on list classification: Promoting from grey to red. 2 families reported with homozgyous nonsense variants in RUSC2 but the microcephaly phenotype is relatively mild although progressive.

Created: 19 May 2021, 5:13 p.m. | Last Modified: 19 May 2021, 5:13 p.m.

Panel Version: 2.179

PMID: 27612186 - Alwadei et al 2016 - report 3 patients from 2 families with severe intellectual disability and microcephaly. Patient 1 had a head circumference in the 75th percentile at birth, but a time of examination it was 1 cm below the 2nd centile. Patient 2 (sibling of patient 1) was thought to have a normal head circumference at birth, but at age 17 head circumference was 48cm (5cm below the 2nd centile). Patient 3 - head circumference thought to be normal at birth, but by age 7 was 46cm (2cm below second centile). Different homozygous nonsense variants in RUSC2 were found in patients in both families. The parents were heterozygous for the variants.

Created: 19 May 2021, 5:11 p.m. | Last Modified: 19 May 2021, 5:11 p.m.

Panel Version: 2.178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 27612186

I don't know

Two unrelated families reported.
Sources: Expert list

Created: 3 Sep 2020, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 61, MIM# 617773

Publications

• 27612186