Non-syndromic hypotrichosis

Gene: SNRPE

Comment on list classification: Kept SNRPE rating as Amber awaiting further cases. Probable DD-G2P gene for hypotrichosis. Originally reviewed as red based on the variable phenotype in the original 1998 Spanish family. Plus, although there are 3 cases presented in PMID:23246290 (Pasternack et al., 2013), the genotype for the Tunisian family is incomplete as only the proband was sequenced.

Created: 20 Feb 2017, 2:18 p.m.

Comment on list classification: Updated rating from Red to Amber: 3 cases presented in PMID:23246290 but in the Tunisian case, DNA is not available from the unaffected parents. And in the Spanish case, the phenotype is highly variable.

Created: 16 Feb 2017, 9:39 a.m.

A third case is given in the same paper: PMID:23246290 (Pasternack et al., 2013) identify an additional mutation ((c.133G>A [p.Gly45Ser]) in a Tunisian boy with hypotrichosis. His parents were unaffected (therefore mutation could be de novo) but their DNA was unavailable for analysis.

Created: 16 Feb 2017, 9:38 a.m.

PMID:23246290 (Pasternack et al., 2013) identify a heterozygous mutation c.1A>G (p.Met1?) in SNRPE in affected members of a Spanish family, and an unrelated British girl. They class the mutation in the British girl as de novo (her unaffected parents lacked the mutation). The Spanish family was previouslyreported by PMID:9621144 (Just et al., 1998), and the reviewer notes this family showed phenotypic variability.

Created: 16 Feb 2017, 9:37 a.m.

I don't know

I note that 2 other cases have been reported with alopecia and mutations in this gene, so there are > 3 unrelated cases.

Created: 13 Feb 2017, 10:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Highly variable phenotype within the single family reported (in 1998).