Cleft Palate Research Today is a free monthly online journal that collates and summarizes the latest research about Cleft Palate, including details on causes, surgery, treatment.

EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?

Maclean K, Holme SA, Gilmour E, Taylor M, Scheffer H, Graf N, Smith GH, Onikul E, van Bokhoven H, Moss C, Adès LC

Department of Clinical Genetics, Children's Hospital at Westmead (CHW), Sydney, Australia. k.maclean@victorchang.unsw.edu.au

We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation, where the phenotype overlapped extensively with the allelic disorder, limb-mammary syndrome (LMS). Features common to both families were an ectodermal dysplasia principally affecting tooth, breast and nipple development, dacryostenosis and severe micturition difficulties. Additional findings included post-axial digital hypoplasia, cleft uvula, anal stenosis, hypoplasia of the perineal body and biopsy-proven interstitial cystitis. No individual had cleft lip. Split hand-split foot malformation (SHFM) occurred in one child-born after the molecular diagnosis was established. Unlike previous reports, the urinary symptoms were refractory to treatment with oral Fibrase and persisted into adulthood. Of the six cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, four have manifested this distinct urological abnormality, indicative of a genotype-phenotype correlation.

Published 30 April 2007 in Am J Med Genet A, 143(10): 1114-9.
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