Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.
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 imperforate 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.
Slavotinek
Anne M
AM
Department of Pediatrics, University of California, San Francisco 94143-0748, USA. slavotia@peds.ucsf.edu
Tanaka
June
J
Winder
Alison
A
Vargervik
Karin
K
Haggstrom
Anita
A
Bamshad
Michael
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000473:pathology*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D016147:Genes, Tumor Suppressor; D006801:Humans; D007767:Lacrimal Duct Obstruction / Q000473:pathology*; D008297:Male; D042361:Mammary Glands, Human / Q000473:pathology; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D014457:Ulna / Q000002:abnormalities
D004268:DNA-Binding Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins