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Article

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

American journal of human genetics - 10 Jan 2013

Pasternack Sandra M, Refke Melanie, Paknia Elham, Hennies Hans Christian, Franz Thomas, Schäfer Niklas, Fryer Alan, van Steensel Maurice, Sweeney Elizabeth, Just Miquel, Grimm Clemens, Kruse Roland, Ferrándiz Carlos, Nöthen Markus M, Fischer Utz, Betz Regina C

Abstract excerpt

Hypotrichosis simplex (HS) comprises a group of hereditary isolated alopecias that are characterized by a diffuse and progressive loss of hair starting in childhood and shows a wide phenotypic variability. We mapped an autosomal-dominant form of HS to chromosome 1q31.3-1q41 in a Spanish family. By direct sequencing, we identified the heterozygous mutation c.1A>G (p.Met1?) in SNRPE that results in loss of the...

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Identifiers

PMID: 23246290
DOI: 10.1016/j.ajhg.2012.10.022
PMCID: PMC3542472

Genes

SNRPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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