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

Abstract

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.

• Authors: Kenneth Maclean, Stephen A Holme, Elizabeth Gilmour, Mark Taylor, Heide Scheffer, Nicole Graf, Grahame H H Smith, Ella Onikul, Hans van Bokhoven, Celia Moss, Lesley C Adès
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 143A Issue 10 Pg. 1114-9 (May 15 2007) ISSN: 1552-4825 [Print] United States
• PMID: 17431922 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA-Binding Proteins
• TP63 protein, human
• Trans-Activators
• Transcription Factors
• Tumor Suppressor Proteins
• Glutamine
• Arginine

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Arginine (genetics)
• Child, Preschool
• Cleft Lip (genetics)
• Cleft Palate (genetics)
• DNA-Binding Proteins (genetics)
• Ectodermal Dysplasia (genetics)
• Female
• Fingers (abnormalities)
• Genotype
• Glutamine (genetics)
• Humans
• Infant
• Male
• Middle Aged
• Pedigree
• Phenotype
• Point Mutation
• Syndrome
• Trans-Activators (genetics)
• Transcription Factors
• Tumor Suppressor Proteins (genetics)
• Urination Disorders (genetics)