Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: Report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63

Anne M. Slavotinek, June Tanaka, Alison Winder, Karin Vargervik, Anita Haggstrom, Michael Bamshad

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

We report on a new patient with clinical findings consistent with acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. The child had sparse hair, extensive freckling, lacrimal duct stenosis, oligodontia, dystrophic nails, reduced sweating, and bilateral athelia. Examination of his hands showed ulnar ray hypoplasia with bilateral fifth finger brachydactyly and camptodactyly. He also had surgical repair of an imperf orate anus. Mutation analysis of TP63 showed a single nucleotide substitution, C.G518A, predicting a novel missense mutation, p.V114M in exon 4. This is the third mutation to be reported in TP63 in ADULT syndrome.

Original languageEnglish (US)
Pages (from-to)146-149
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume138 A
Issue number2
DOIs
StatePublished - Oct 1 2005
Externally publishedYes

Keywords

  • ADULT syndrome
  • Ectodermal dysplasia
  • TP63 gene
  • Ulnar-mammary syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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