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Article

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

Journal of human genetics - 1 Nov 2015

Lee Beom Hee, Kasparis Christos, Chen Brenden, Mei Hui, Edelmann Lisa, Moss Celia, Weaver David D, Desnick Robert J

Abstract excerpt

Setleis syndrome, focal facial dermal dysplasia type III (FFDD3, MIM #227260), is characterized by scar-like bitemporal lesions and other ocular and facial dysmorphic features. The syndrome results from recessive mutations in the TWIST2 gene, encoding a basic helix-loop-helix transcription factor or de novo genomic duplication or triplication, which include 1.3 Mb at 1p36.22p36.21, or other yet undefined lesions,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26311541
DOI: 10.1038/jhg.2015.103

Genes

TWIST2

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.

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Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.PMID 26311541Read ↗

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 ↗

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

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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.Semantic proximity Read ↗

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.Semantic proximity Read ↗

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