PORCN基因嵌合突變致男性局灶性真皮發(fā)育不全1例并文獻(xiàn)復(fù)習(xí)
發(fā)布時(shí)間：2018-09-08 18:07
【摘要】：目的報(bào)道1例PORCN基因嵌合突變致男性局灶性真皮發(fā)育不全(FDH)患兒并文獻(xiàn)復(fù)習(xí),為該病的臨床診斷提供參考。方法總結(jié)患兒的臨床表現(xiàn)、輔助檢查和基因測(cè)序結(jié)果。在Pubmed、萬(wàn)方數(shù)據(jù)庫(kù)和中國(guó)知網(wǎng)中檢索建庫(kù)至2017年9月30日?qǐng)?bào)道的PORCN突變致FDH綜合征的病例,歸納該病的臨床表現(xiàn),篩選并總結(jié)存活男性患兒的基因型和臨床表型。結(jié)果患兒男,12歲2月,因"身材矮小"就診。當(dāng)?shù)蒯t(yī)院檢查胰島素樣生長(zhǎng)因子1(IGF1)343.8 ng·m L~(-1),胰島素樣生長(zhǎng)因子結(jié)合蛋白3(IGFBP3)4.9μg·m L~(-1);垂體MR增強(qiáng)掃描未見(jiàn)異常;B超檢查雙側(cè)睪丸、腎上腺未見(jiàn)異常。身高142cm(-1.4 SD),體重36.1 kg;左側(cè)第4腳趾明顯小于右側(cè);左側(cè)腹部和腿部有沿Blaschko線的色素減退,左側(cè)臀部及陰莖左側(cè)面有淺黃色脂肪膨出;雙足X線正位片示,左足第1、4、5跖骨和左拇趾第1趾骨較細(xì),第4趾骨細(xì)小,左拇趾末節(jié)趾骨短、末端細(xì)尖。性激素6項(xiàng)未見(jiàn)異常。韋氏兒童智力量表測(cè)試顯示語(yǔ)言、總分分值偏低。基因檢測(cè)顯示PORCN基因c.178GA嵌合突變,確診為PORCN基因嵌合突變致FDH。共檢索到36篇英文文獻(xiàn)報(bào)道了經(jīng)基因檢測(cè)確診為PORCN突變導(dǎo)致的FDH綜合征205例,其中男性22例(3例在出生后死亡);臨床表現(xiàn)以皮膚(72.7%)、骨骼系統(tǒng)(66.8%)和顱面部(58.5%)最常見(jiàn)。20例(包括本文1例)存活的PORCN突變導(dǎo)致的FDH綜合征男性患兒中除1例為46,XXY Klinefelter綜合征外,余均為嵌合體或合子后嵌合;均存在皮膚發(fā)育不全,其他臨床表現(xiàn)多樣。結(jié)論 FDH不僅可表現(xiàn)為肢體和皮膚異常,還可導(dǎo)致智力發(fā)育遲滯。PORCN基因突變所致FDH為X連鎖顯性遺傳病,男性雜合患者多為胚胎致死性,存活男性多為嵌合突變且臨床表現(xiàn)異質(zhì)性高,臨床易漏診,對(duì)存在皮膚相似病變懷疑該病者應(yīng)做基因檢測(cè)以輔助診斷。
[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.
【作者單位】： 復(fù)旦大學(xué)附屬兒科醫(yī)院內(nèi)分泌遺傳代謝科;復(fù)旦大學(xué)附屬兒科醫(yī)院分子診斷中心 上海市出生缺陷防治重點(diǎn)實(shí)驗(yàn)室;
【分類(lèi)號(hào)】：R725.9
本文編號(hào)：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.
【作者單位】： 復(fù)旦大學(xué)附屬兒科醫(yī)院內(nèi)分泌遺傳代謝科;復(fù)旦大學(xué)附屬兒科醫(yī)院分子診斷中心 上海市出生缺陷防治重點(diǎn)實(shí)驗(yàn)室;
【分類(lèi)號(hào)】：R725.9
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，本文編號(hào)：2231287
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