Division of Genetics, Department of Pediatrics, MaulanaAzad Medical College, New Delhi 110002, India.
Indian J Pediatr. 2012 Jan;79(1):120-3. doi: 10.1007/s12098-011-0513-y. Epub 2011 Jul 6.
Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2 + 1G > A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.
戈尔茨综合征或局限性皮肤发育不良是一种罕见的临床综合征，表现为皮肤、骨骼、牙齿、眼部、中枢神经系统和软组织缺陷。作者报告了一例临床诊断为戈尔茨综合征的女性患儿，证实存在 PORCN 基因 IVS2 + 1G > A 的新型剪接位点突变。对文献中报道的 80 多个致病性突变的回顾表明，这是一种新的突变。
