PORCN基因嵌合突变致男性局灶性真皮发育不全1例并文献复习
发布时间：2018-09-08 18:07
【摘要】：目的报道1例PORCN基因嵌合突变致男性局灶性真皮发育不全(FDH)患儿并文献复习,为该病的临床诊断提供参考。方法总结患儿的临床表现、辅助检查和基因测序结果。在Pubmed、万方数据库和中国知网中检索建库至2017年9月30日报道的PORCN突变致FDH综合征的病例,归纳该病的临床表现,筛选并总结存活男性患儿的基因型和临床表型。结果患儿男,12岁2月,因"身材矮小"就诊。当地医院检查胰岛素样生长因子1(IGF1)343.8 ng·m L~(-1),胰岛素样生长因子结合蛋白3(IGFBP3)4.9μg·m L~(-1);垂体MR增强扫描未见异常;B超检查双侧睾丸、肾上腺未见异常。身高142cm(-1.4 SD),体重36.1 kg;左侧第4脚趾明显小于右侧;左侧腹部和腿部有沿Blaschko线的色素减退,左侧臀部及阴茎左侧面有浅黄色脂肪膨出;双足X线正位片示,左足第1、4、5跖骨和左拇趾第1趾骨较细,第4趾骨细小,左拇趾末节趾骨短、末端细尖。性激素6项未见异常。韦氏儿童智力量表测试显示语言、总分分值偏低。基因检测显示PORCN基因c.178GA嵌合突变,确诊为PORCN基因嵌合突变致FDH。共检索到36篇英文文献报道了经基因检测确诊为PORCN突变导致的FDH综合征205例,其中男性22例(3例在出生后死亡);临床表现以皮肤(72.7%)、骨骼系统(66.8%)和颅面部(58.5%)最常见。20例(包括本文1例)存活的PORCN突变导致的FDH综合征男性患儿中除1例为46,XXY Klinefelter综合征外,余均为嵌合体或合子后嵌合;均存在皮肤发育不全,其他临床表现多样。结论 FDH不仅可表现为肢体和皮肤异常,还可导致智力发育迟滞。PORCN基因突变所致FDH为X连锁显性遗传病,男性杂合患者多为胚胎致死性,存活男性多为嵌合突变且临床表现异质性高,临床易漏诊,对存在皮肤相似病变怀疑该病者应做基因检测以辅助诊断。
[Abstract]:Objective to report a case of male patients with focal dermal dysplasia (FDH) caused by chimeric mutation of PORCN gene and review the literature so as to provide a reference for the clinical diagnosis of the disease. Methods the clinical manifestation, auxiliary examination and gene sequencing of the children were summarized. Cases of FDH syndrome caused by PORCN mutation were searched in Pubmed, Wanfang database and Chinese Web site from September 30, 2017. The clinical manifestations of the disease were summarized, and the genotypes and clinical phenotypes of surviving male children were screened and summarized. Results the boy, 12 years old, was treated for short stature for 2 months. Insulin-like growth factor 1 (IGF1) 343.8 ng mL ~ (-1), insulin-like growth factor binding protein 3 (IGFBP3) 4.9 渭 g mL ~ (-1) were examined in local hospitals, pituitary MR enhanced scan was not abnormal, and the adrenal gland was not abnormal by B-ultrasonography. Height 142cm (-1.4 SD), body weight 36.1 kg;) left fourth toe was significantly smaller than right side, left abdomen and leg had pigmentation along Blaschko line, left buttocks and left side of penis had light yellow fat bulge. The first metatarsal bone of the left foot and the first phalanx of the left hallux are finer, the fourth phalanx is small, the toe of the left hallux is short and the end of the toe is fine. There was no abnormal sex hormone in 6 items. Wechsler Children's Intelligence scale test showed that the total score was low. Gene analysis showed that PORCN gene c.178GA chimeric mutation was diagnosed as PORCN gene chimeric mutation and FDH. was induced by PORCN gene chimeric mutation. A total of 36 English literatures were reported on 205 cases of FDH syndrome diagnosed by gene detection as PORCN mutation. Of the 22 males (3 died after birth), the most common clinical manifestations were skin (72.7%), skeletal system (66.8%) and craniofacial (58.5%). The most common cases of FDH syndrome caused by surviving PORCN mutation were 46.XXY Klinefelter syndrome in 1 case. All the others were chimerism or postzygote chimerism, all had hypoplasia of skin, and other clinical manifestations were various. Conclusion FDH can not only show abnormal limbs and skin, but also cause the FDH caused by the mutation of the. PORCN gene in mental retardation is X-linked dominant hereditary disease. The male heterozygosity patients are mostly embryogenicity. Most of the surviving males are chimeric mutations with high clinical heterogeneity. It is easy to miss diagnosis in clinic. Gene detection should be done to assist diagnosis in patients with suspected skin similar lesions.
【作者单位】： 复旦大学附属儿科医院内分泌遗传代谢科;复旦大学附属儿科医院分子诊断中心 上海市出生缺陷防治重点实验室;
【分类号】：R725.9
本文编号：2231287
[Abstract]:Objective to report a case of male patients with focal dermal dysplasia (FDH) caused by chimeric mutation of PORCN gene and review the literature so as to provide a reference for the clinical diagnosis of the disease. Methods the clinical manifestation, auxiliary examination and gene sequencing of the children were summarized. Cases of FDH syndrome caused by PORCN mutation were searched in Pubmed, Wanfang database and Chinese Web site from September 30, 2017. The clinical manifestations of the disease were summarized, and the genotypes and clinical phenotypes of surviving male children were screened and summarized. Results the boy, 12 years old, was treated for short stature for 2 months. Insulin-like growth factor 1 (IGF1) 343.8 ng mL ~ (-1), insulin-like growth factor binding protein 3 (IGFBP3) 4.9 渭 g mL ~ (-1) were examined in local hospitals, pituitary MR enhanced scan was not abnormal, and the adrenal gland was not abnormal by B-ultrasonography. Height 142cm (-1.4 SD), body weight 36.1 kg;) left fourth toe was significantly smaller than right side, left abdomen and leg had pigmentation along Blaschko line, left buttocks and left side of penis had light yellow fat bulge. The first metatarsal bone of the left foot and the first phalanx of the left hallux are finer, the fourth phalanx is small, the toe of the left hallux is short and the end of the toe is fine. There was no abnormal sex hormone in 6 items. Wechsler Children's Intelligence scale test showed that the total score was low. Gene analysis showed that PORCN gene c.178GA chimeric mutation was diagnosed as PORCN gene chimeric mutation and FDH. was induced by PORCN gene chimeric mutation. A total of 36 English literatures were reported on 205 cases of FDH syndrome diagnosed by gene detection as PORCN mutation. Of the 22 males (3 died after birth), the most common clinical manifestations were skin (72.7%), skeletal system (66.8%) and craniofacial (58.5%). The most common cases of FDH syndrome caused by surviving PORCN mutation were 46.XXY Klinefelter syndrome in 1 case. All the others were chimerism or postzygote chimerism, all had hypoplasia of skin, and other clinical manifestations were various. Conclusion FDH can not only show abnormal limbs and skin, but also cause the FDH caused by the mutation of the. PORCN gene in mental retardation is X-linked dominant hereditary disease. The male heterozygosity patients are mostly embryogenicity. Most of the surviving males are chimeric mutations with high clinical heterogeneity. It is easy to miss diagnosis in clinic. Gene detection should be done to assist diagnosis in patients with suspected skin similar lesions.
【作者单位】： 复旦大学附属儿科医院内分泌遗传代谢科;复旦大学附属儿科医院分子诊断中心 上海市出生缺陷防治重点实验室;
【分类号】：R725.9
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