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

David E. Cervantes-Barragán, Camilo E. Villarroel, Alma Medrano-Hernández, Carola Durán-McKinster, Vanessa Bosch-Canto, Victoria del-Castillo, Irina Nazarenko, Amy Yang, Robert J. Desnick

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Background: The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling 'forceps marks'. Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive inheritance. Mexican-Nahua sibs with facial and ophthalmologic features of FFDD type III were evaluated. Methods: Genomic DNAs were isolated for sequencing of the TWIST2 gene. The clinical features and inheritance of all previously reported FFDD patients were reviewed. Results: The affected sibs were homozygous for a novel TWIST2 frameshift mutation, c.168delC (p.S57AfsX45). Notably, both parents and two heterozygous sibs had distichiasis and partial absence of lower eyelashes. The FFDD subtypes were reclassified: the 'Brauer-Setleis' phenotype (autosomal dominant with variable expressivity) as FFDD type II; and patients with preauricular lesions as a new subtype, FFDD type IV. Conclusions: FFDD type III heterozygotes with TWIST2 mutations may have syndromic manifestations. Review of previous FFDD patients resulted in reclassification of the subtypes.

Original languageEnglish (US)
Pages (from-to)716-720
Number of pages5
JournalJournal of medical genetics
Volume48
Issue number10
DOIs
StatePublished - Oct 1 2011
Externally publishedYes

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Frameshift Mutation
Heterozygote
Eyelashes
Facial ectodermal dysplasia
Focal facial dermal dysplasia
Nonsense Codon
Surgical Instruments
Cicatrix
Parents
Phenotype
Mutation
DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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. / Cervantes-Barragán, David E.; Villarroel, Camilo E.; Medrano-Hernández, Alma; Durán-McKinster, Carola; Bosch-Canto, Vanessa; del-Castillo, Victoria; Nazarenko, Irina; Yang, Amy; Desnick, Robert J.

In: Journal of medical genetics, Vol. 48, No. 10, 01.10.2011, p. 716-720.

Research output: Contribution to journalArticle

Cervantes-Barragán, David E. ; Villarroel, Camilo E. ; Medrano-Hernández, Alma ; Durán-McKinster, Carola ; Bosch-Canto, Vanessa ; del-Castillo, Victoria ; Nazarenko, Irina ; Yang, Amy ; Desnick, Robert J. / 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. In: Journal of medical genetics. 2011 ; Vol. 48, No. 10. pp. 716-720.
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abstract = "Background: The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling 'forceps marks'. Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive inheritance. Mexican-Nahua sibs with facial and ophthalmologic features of FFDD type III were evaluated. Methods: Genomic DNAs were isolated for sequencing of the TWIST2 gene. The clinical features and inheritance of all previously reported FFDD patients were reviewed. Results: The affected sibs were homozygous for a novel TWIST2 frameshift mutation, c.168delC (p.S57AfsX45). Notably, both parents and two heterozygous sibs had distichiasis and partial absence of lower eyelashes. The FFDD subtypes were reclassified: the 'Brauer-Setleis' phenotype (autosomal dominant with variable expressivity) as FFDD type II; and patients with preauricular lesions as a new subtype, FFDD type IV. Conclusions: FFDD type III heterozygotes with TWIST2 mutations may have syndromic manifestations. Review of previous FFDD patients resulted in reclassification of the subtypes.",
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AU - Villarroel, Camilo E.

AU - Medrano-Hernández, Alma

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AU - Yang, Amy

AU - Desnick, Robert J.

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