Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome

George A. Tanteles, Nayia Nicolaou, Andreas Syrimis, Rafaella Metaxa, Michael Nicolaou, Violetta Christophidou-Anastasiadou, Nicos Skordis

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. We report a family (twin brothers and their father) affected with UMS because of a novel TBX3 mutation. The twin brothers showed classical features of UMS, whereas their father was mildly affected. The c.1423C > T (p.Q475∗ense mutation in exon 6 of the TBX3 gene identified in the patients by targeted Sanger sequencing is predicted to lead to premature termination of translation. This is the first report of a Cypriot family with UMS resulting from a novel TBX3 mutation. This report provides additional evidence in support of the rich variability in phenotypic expression, the mutational heterogeneity and ethnic diversity associated with this rare condition.

Original languageEnglish
Pages (from-to)61-65
Number of pages5
JournalClinical Dysmorphology
Volume26
Issue number2
DOIs
Publication statusPublished - 2017

Keywords

  • Cyprus
  • novel TBX3
  • ulnar-mammary syndrome

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    Tanteles, G. A., Nicolaou, N., Syrimis, A., Metaxa, R., Nicolaou, M., Christophidou-Anastasiadou, V., & Skordis, N. (2017). Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. Clinical Dysmorphology, 26(2), 61-65. https://doi.org/10.1097/MCD.0000000000000170