Epileptic encephalopathy

Gene: HNRNPH2

Green List (high evidence)

Comment on list classification: changed from red to green due to evidence in the literature

Created: 19 Dec 2017, 12:14 p.m.

Added from Intellectual disability panel update as gene is also relevant to this panel

Created: 19 Dec 2017, 12:11 p.m.

Bain et al. (2016) PMID: 27545675 reported 5 unrelated female patients with the Bain type of X-linked syndromic mental retardation patients who were shown to manifest psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected. Bain et al. (2016) also noted that all mutations affected highly conserved residues in the nuclear localization sequence, and postulated a toxic gain-of-function effect, suggesting that these variants may be lethal in males.

Created: 19 Dec 2017, 12:11 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Mental retardation, X-linked, syndromic, Bain type, 300986; MRXSB

Publications

• 27545675