Liu Yumei, Zhou Xin, Deng Huiyan, He Yuqing, Zhu Huilan, Zhang Xibao
Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, Guangdong, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):675-7. doi: 10.3760/cma.j.issn.1003-9406.2010.06.016.
To detect the mutation of PORCN gene in a patient with focal dermal hypoplasia and study the genotype-phenotype correlation.
Peripheral blood samples were obtained from the family members and control subjects. PCR was carried out to amplify all the exons and adjacent splice sites of PORCN gene and mutation was detected by bidirectional sequencing.
A G149C mutation was found at exon 2 of the PORCN gene in the patient, which caused a change from Alanine to Proline at codon 38 (A38P). The patient presented mild clinical manifestations.
A new missense mutation (A38P) in the PORCN was detected in the patient, which maybe one of the molecular mechanisms in the pathogenesis of the disease. The relationship between G149C genotype and moderate phenotype might be attributed to the influence of A38P missense mutation towards the corresponding protein, which is different from previous results.
检测1例局灶性真皮发育不全患者PORCN基因的突变情况，并研究其基因型与表型的相关性。
采集患者家系成员及对照者的外周血样本。采用聚合酶链反应（PCR）扩增PORCN基因的所有外显子及相邻剪接位点，双向测序检测突变情况。
在该患者的PORCN基因第2外显子发现一个G149C突变，导致第38密码子由丙氨酸变为脯氨酸（A38P）。该患者临床表现较轻。
在该患者中检测到PORCN基因一个新的错义突变（A38P），这可能是该疾病发病机制的分子机制之一。G149C基因型与中度表型之间的关系可能归因于A38P错义突变对相应蛋白质的影响，这与以往结果不同。
