Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome

American Journal of Medical Genetics. Part a
Peter KannuJohn A McGrath

Abstract

We report on the clinical and molecular abnormalities in a 7-month-old girl and her mother with an ectodermal dysplasia disorder that most closely resembles Rapp-Hodgkin syndrome (RHS). At birth, the child had bilateral cleft palate, a narrow pinched nose, small chin, and hypoplastic nipples, and suffered from respiratory distress, feeding difficulties, and poor weight gain, although developmental progress was normal. Her mother had a cleft palate, sparse hair, high forehead, dental anomalies, a narrow nose, dysplastic nails, and reduced sweating. Sequencing of the p63 gene in genomic DNA from both individuals revealed a heterozygous frameshift mutation, 1721delC, in exon 14. This mutation has not been described previously and is the seventh report of a pathogenic p63 gene mutation in RHS. The frameshift results in changes to the tail of p63 with the addition of 90 missense amino acids downstream and a delayed termination codon that extends the protein by 21 amino acids. This mutation is predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is c...Continue Reading

References

Jun 1, 1990·Pediatric Dermatology·I B Felding, L J Björklund
Dec 1, 1968·Journal of Medical Genetics·R S Rapp, W E Hodgkin
Jan 1, 1994·The British Journal of Dermatology·S CambiaghiR Caputo
Mar 1, 1997·Pediatric Dermatology·S Cliff, C A Holden
Feb 13, 2001·Human Molecular Genetics·J A McGrathH van Bokhoven
Sep 8, 2001·Journal of Medical Genetics·M Priolo, C Laganà
May 31, 2002·American Journal of Human Genetics·Hans van Bokhoven, Han G Brunner
Oct 3, 2002·American Journal of Medical Genetics·Han G BrunnerHans van Bokhoven Hv
Apr 15, 2003·The Journal of Biological Chemistry·Alexey FomenkovEdward Ratovitski
May 27, 2003·Journal of Dental Research·P N KantaputraJ A McGrath
Jun 26, 2003·Clinical and Experimental Dermatology·J Lamartine
Aug 27, 2003·European Journal of Human Genetics : EJHG·Gaëlle BougeardThierry Frébourg
Dec 20, 2003·Journal of Medical Genetics·I DianzaniG Annerén
Feb 6, 2004·Journal of Dermatological Science·Maranke I Koster, Dennis R Roop
Feb 24, 2005·Clinical and Experimental Dermatology·I ChanS Kivirikko
Apr 6, 2005·Clinical and Experimental Dermatology·V ShotelersukS Tongkobpetch

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Citations

May 5, 2007·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·David S CabilingRichard E Kirschner
Oct 30, 2012·Actas dermo-sifiliográficas·P García-MartínA Torrelo
Apr 8, 2011·The Journal of Investigative Dermatology·Hans VanbokhovenWim Declercq
Jun 16, 2015·PloS One·Wei YinZhuan Bian
Apr 23, 2010·Journal of Dental Research·W YinZ Bian
Jul 25, 2019·Dermatology and Therapy·Azhar AhmedAntonella Tosti

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