A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly
Background: Transmembrane protein 231 (TMEM231) is a component of the B9 complex that participates in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in TMEM231 gene may contribute to the Joubert syndrome (JBTS) or Meckel–Gruber syndrome (MKS). However, report...
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2021
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oai:doaj.org-article:0ba140f824a7427f93e2d06100310f162021-12-01T13:11:17ZA Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly2296-236010.3389/fped.2021.774575https://doaj.org/article/0ba140f824a7427f93e2d06100310f162021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.774575/fullhttps://doaj.org/toc/2296-2360Background: Transmembrane protein 231 (TMEM231) is a component of the B9 complex that participates in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in TMEM231 gene may contribute to the Joubert syndrome (JBTS) or Meckel–Gruber syndrome (MKS). However, reports on JBTS or MKS caused by TMEM231 mutations are comparatively rare.Method: We describe a Chinese fetus with unexplained hypoplasia of the cerebellar vermis and polydactyly, detected by ultrasound imaging. The fetus was primarily diagnosed with JBTS/MKS. The parents of this fetus were non-consanguineous and healthy. Whole-exome sequencing (WES) and bioinformatics strategies were employed to explore the genetic lesion of this family.Results: An unknown missense variant (c.19C>T;p.R7W) of TMEM231 gene was detected. The variant was predicted as pathogenic and was absent in our 200 healthy controls.Conclusion: WES was employed to explore the genetic lesion of a fetus with unexplained hypoplasia of the cerebellar vermis and polydactyly. A novel variant in TMEM231 gene was identified. Our study not only provided data for genetic counseling and prenatal diagnosis to this family but also broadened the spectrum of TMEM231 mutations.Tao WangYu-Xing LiuFang-Mei LuoYi DongYa-Li LiLiang-Liang FanLiang-Liang FanLiang-Liang FanFrontiers Media S.A.articleJBTSMKSTMEM231mutationhomozygotewhole-exome sequencingPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021) |
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DOAJ |
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EN |
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JBTS MKS TMEM231 mutation homozygote whole-exome sequencing Pediatrics RJ1-570 |
| spellingShingle |
JBTS MKS TMEM231 mutation homozygote whole-exome sequencing Pediatrics RJ1-570 Tao Wang Yu-Xing Liu Fang-Mei Luo Yi Dong Ya-Li Li Liang-Liang Fan Liang-Liang Fan Liang-Liang Fan A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly |
| description |
Background: Transmembrane protein 231 (TMEM231) is a component of the B9 complex that participates in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in TMEM231 gene may contribute to the Joubert syndrome (JBTS) or Meckel–Gruber syndrome (MKS). However, reports on JBTS or MKS caused by TMEM231 mutations are comparatively rare.Method: We describe a Chinese fetus with unexplained hypoplasia of the cerebellar vermis and polydactyly, detected by ultrasound imaging. The fetus was primarily diagnosed with JBTS/MKS. The parents of this fetus were non-consanguineous and healthy. Whole-exome sequencing (WES) and bioinformatics strategies were employed to explore the genetic lesion of this family.Results: An unknown missense variant (c.19C>T;p.R7W) of TMEM231 gene was detected. The variant was predicted as pathogenic and was absent in our 200 healthy controls.Conclusion: WES was employed to explore the genetic lesion of a fetus with unexplained hypoplasia of the cerebellar vermis and polydactyly. A novel variant in TMEM231 gene was identified. Our study not only provided data for genetic counseling and prenatal diagnosis to this family but also broadened the spectrum of TMEM231 mutations. |
| format |
article |
| author |
Tao Wang Yu-Xing Liu Fang-Mei Luo Yi Dong Ya-Li Li Liang-Liang Fan Liang-Liang Fan Liang-Liang Fan |
| author_facet |
Tao Wang Yu-Xing Liu Fang-Mei Luo Yi Dong Ya-Li Li Liang-Liang Fan Liang-Liang Fan Liang-Liang Fan |
| author_sort |
Tao Wang |
| title |
A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly |
| title_short |
A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly |
| title_full |
A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly |
| title_fullStr |
A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly |
| title_full_unstemmed |
A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly |
| title_sort |
novel homozygous variant of tmem231 in a case with hypoplasia of the cerebellar vermis and polydactyly |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/0ba140f824a7427f93e2d06100310f16 |
| work_keys_str_mv |
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