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Article

Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

American journal of human genetics - 13 Aug 2010

Tukel Turgut, Šošić Drazen, Al-Gazali Lihadh I, Erazo Mónica, Casasnovas Jose, Franco Hector L, Richardson James A, Olson Eric N, Cadilla Carmen L, Desnick Robert J

Abstract excerpt

The focal facial dermal dysplasias (FFDDs) are a group of inherited developmental disorders in which the characteristic diagnostic feature is bitemporal scar-like lesions that resemble forceps marks. To date, the genetic defects underlying these ectodermal dysplasias have not been determined. To identify the gene defect causing autosomal-recessive Setleis syndrome (type III FFDD), homozygosity mapping was...

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Source

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Identifiers

PMID: 20691403
DOI: 10.1016/j.ajhg.2010.07.009
PMCID: PMC2917720

Genes

TWIST2
TWIST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.PMID 20691403Read ↗

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.Semantic proximity Read ↗

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.Semantic proximity Read ↗

The TWIST2 mutation causes Setleis syndrome: a rare clinical case report.Semantic proximity Read ↗

De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).Semantic proximity Read ↗

Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia.Semantic proximity Read ↗

A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1.Semantic proximity Read ↗

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Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.Semantic proximity Read ↗

An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.Semantic proximity Read ↗

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Semantic proximity Read ↗

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