{"title":"与颅骨外胚层发育不良严重表型相关的 IFT122 新变体","authors":"Shiho Nagayama, Hironori Takahashi, Fuyuki Hasegawa, Asuka Hori, Sho Kizami, Rieko Furukawa, Kenji Horie, Manabu Ogoyama, Kenichiro Hata, Hiroyuki Fujiwara","doi":"10.1111/cga.12569","DOIUrl":null,"url":null,"abstract":"<p>A 27-year-old multiparous woman conceived her fetus naturally. Early second-trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole-exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound heterozygous variants (NC_000003.11(NM_052989.3):c.230 T > G/NC_000003.11(NM_052985.4):c.1178A > T) were identified. We described a fetus with a novel compound heterozygous variant in <i>IFT122</i>. The phenotype of this case was severer than of other types of cranioectodermal dysplasia.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia\",\"authors\":\"Shiho Nagayama, Hironori Takahashi, Fuyuki Hasegawa, Asuka Hori, Sho Kizami, Rieko Furukawa, Kenji Horie, Manabu Ogoyama, Kenichiro Hata, Hiroyuki Fujiwara\",\"doi\":\"10.1111/cga.12569\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>A 27-year-old multiparous woman conceived her fetus naturally. Early second-trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole-exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound heterozygous variants (NC_000003.11(NM_052989.3):c.230 T > G/NC_000003.11(NM_052985.4):c.1178A > T) were identified. We described a fetus with a novel compound heterozygous variant in <i>IFT122</i>. The phenotype of this case was severer than of other types of cranioectodermal dysplasia.</p>\",\"PeriodicalId\":10626,\"journal\":{\"name\":\"Congenital Anomalies\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2024-04-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Congenital Anomalies\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/cga.12569\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Congenital Anomalies","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/cga.12569","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
摘要
一名 27 岁的多产妇自然怀上了胎儿。第二胎早期超声波检查显示胎儿四肢短小,全身皮下水肿。由于畸形,根据父母的意愿,在妊娠 19 周时人工终止妊娠。父母希望利用脐带和父母的唾液进行全外显子组测序,以检测致病基因。结果发现了复杂合子变异(NC_000003.11(NM_052989.3):c.230 T >G/NC_000003.11(NM_052985.4):c.1178A >T)。我们描述了一个患有 IFT122 复合杂合变异的胎儿。该病例的表型比其他类型的颅外胚层发育不良更为严重。
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia
A 27-year-old multiparous woman conceived her fetus naturally. Early second-trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole-exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound heterozygous variants (NC_000003.11(NM_052989.3):c.230 T > G/NC_000003.11(NM_052985.4):c.1178A > T) were identified. We described a fetus with a novel compound heterozygous variant in IFT122. The phenotype of this case was severer than of other types of cranioectodermal dysplasia.
期刊介绍:
Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.