title: Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
abstract: A male child with clinical features consistent with EEC/EECUT plus syndrome (ectrodactyly, ectodermal dysplasia, clefting, urinary tract abnormalities, and thymic abnormalities) including mild ectodermal abnormalities, ectrodactyly of hands and feet, cleft palate, bilateral hydronephrosis, and T cell lymphopenia is reported. He was noted to have T cell receptor excision circle (TREC) analysis below the cutoff for normal on newborn screening and T cell lymphopenia on further immunologic evaluation. A novel, presumably pathogenic de novo 3 bp deletion in exon 7 of TP63 (c.970_972delATT; NCBI Reference Sequence NM_003722.4) was identified. This observation provides supporting evidence for the association between TP63 mutations and EECUT plus syndrome. Clinicians caring for infants presenting with EEC spectrum disorders in the newborn period should also consider the possibility of T cell lymphopenia.
authors.affiliation: Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin 53705-9345, USA. pfgiampietro@pediatrics.wisc.edu
authors.forename: Philip F
authors.initials: PF
authors.lastname: Giampietro
authors.forename: Mei W
authors.initials: MW
authors.lastname: Baker
authors.forename: Monica J
authors.initials: MJ
authors.lastname: Basehore
authors.forename: Julie R
authors.initials: JR
authors.lastname: Jones
authors.forename: Christine M
authors.initials: CM
authors.lastname: Seroogy
mesh_terms: D001483:Base Sequence; D002648:Child; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005838:Genotype; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D008231:Lymphopenia / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype; D017384:Sequence Deletion; D013601:T-Lymphocytes / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins