Ergin Hacer, Semerci C Nur, Karakuş Y Tuğrul, Scheffer Hans, Ergin Seniz, Koltuksuz Uğur, Meijer Rowdy, Satiroğlu-Tufan N Lale
Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Turk J Pediatr. 2010 Sep-Oct;52(5):529-33.
The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia. The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients. Nonsyndromic split hand/foot malformation (SHFM) is one of the EEC-like syndromes, and the p63 gene mutation was reported in only a few patients. Five different loci have been mapped to date, but the etiology is yet to be explained in the rest of the patients. Here, we report two cases. Case 1, diagnosed with EEC syndrome, had type 2 urogenital sinus and a new heterozygous mutation of 934G>A (D312N) in exon 8 of the p63 gene. Case 2 was diagnosed as SHFM with no mutation in the p63 gene. Genotype and phenotype correlation of these two cases among the reported patients is discussed in this report.
p63基因是一种转录因子，属于p53家族成员。p63基因的杂合子突变在包括肢体发育和/或外胚层发育异常在内的多种人类综合征中被提及。以缺指（趾）畸形（E）、外胚层发育异常（E）和唇裂（C）伴或不伴腭裂为特征的EEC综合征，是这些综合征的典型代表，大多数患者的p63基因存在杂合子突变。非综合征性手足裂畸形（SHFM）是一种类似EEC的综合征，仅在少数患者中报道了p63基因突变。迄今为止已定位了五个不同的基因座，但其余患者的病因仍有待解释。在此，我们报告两例病例。病例1被诊断为EEC综合征，患有2型泌尿生殖窦，p63基因第8外显子有新的934G>A（D312N）杂合突变。病例2被诊断为SHFM，p63基因未发生突变。本报告讨论了这两例病例在已报道患者中的基因型与表型相关性。
