Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia
Objective: Microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare X-linked dominant genetic disease, and most MICPCHs are ascribed to CASK mutations, while few are revealed in Chinese patients. This study aims to identify the pathogenic mutation in a Chinese proband with MICPCH.Metho...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.856636/full |
| _version_ | 1811276613441028096 |
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| author | Guilan Xie Guilan Xie Yan Zhang Wenfang Yang Liren Yang Liren Yang Ruiqi Wang Ruiqi Wang Mengmeng Xu Landi Sun Landi Sun Boxing Zhang Boxing Zhang Xiaoyi Cui Xiaoyi Cui |
| author_facet | Guilan Xie Guilan Xie Yan Zhang Wenfang Yang Liren Yang Liren Yang Ruiqi Wang Ruiqi Wang Mengmeng Xu Landi Sun Landi Sun Boxing Zhang Boxing Zhang Xiaoyi Cui Xiaoyi Cui |
| author_sort | Guilan Xie |
| collection | DOAJ |
| description | Objective: Microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare X-linked dominant genetic disease, and most MICPCHs are ascribed to CASK mutations, while few are revealed in Chinese patients. This study aims to identify the pathogenic mutation in a Chinese proband with MICPCH.Methods: A 3-year-old female Chinese proband with MICPCH and her parents were included. Clinical data were collected from the medical records and recalled by the proband’s mother. Whole genome sequencing and Sanger sequencing were used to find the pathogenic mutation of MICPCH.Results: The proband presented with postnatal progressive microcephaly, cerebellar hypoplasia, intellectual disability, motor and language development retardation and limb hypertonia. Genetic analysis indicated that there was a novel compound heterozygote nonsynonymous mutation, c.755T>C(p.Leu252Pro) in exon8 of CASK gene in the proband, but not in her parents. This CASK mutation has not been reported in other databases.Conclusion: This study broadens the mutation spectrum of the CASK gene and is of great value for precise prenatal diagnosis and genetic counseling. |
| first_indexed | 2024-04-12T23:59:44Z |
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| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-12T23:59:44Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Genetics |
| spelling | doaj.art-fc2556439ed94b7cbb957b16ac12c8d12022-12-22T03:11:23ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-09-011310.3389/fgene.2022.856636856636Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasiaGuilan Xie0Guilan Xie1Yan Zhang2Wenfang Yang3Liren Yang4Liren Yang5Ruiqi Wang6Ruiqi Wang7Mengmeng Xu8Landi Sun9Landi Sun10Boxing Zhang11Boxing Zhang12Xiaoyi Cui13Xiaoyi Cui14Department of Obstetrics and Gynecology, Maternal and Child Health Center, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaSchool of Public Health, Xi’an Jiaotong University Health Science Center, Xi’an, ChinaCenter for Translational Medicine, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaDepartment of Obstetrics and Gynecology, Maternal and Child Health Center, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaDepartment of Obstetrics and Gynecology, Maternal and Child Health Center, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaSchool of Public Health, Xi’an Jiaotong University Health Science Center, Xi’an, ChinaDepartment of Obstetrics and Gynecology, Maternal and Child Health Center, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaSchool of Public Health, Xi’an Jiaotong University Health Science Center, Xi’an, ChinaDepartment of Obstetrics and Gynecology, Maternal and Child Health Center, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaDepartment of Obstetrics and Gynecology, Maternal and Child Health Center, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaSchool of Public Health, Xi’an Jiaotong University Health Science Center, Xi’an, ChinaDepartment of Obstetrics and Gynecology, Maternal and Child Health Center, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaSchool of Public Health, Xi’an Jiaotong University Health Science Center, Xi’an, ChinaDepartment of Obstetrics and Gynecology, Maternal and Child Health Center, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaPeking University Health Science Center, Beijing, ChinaObjective: Microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare X-linked dominant genetic disease, and most MICPCHs are ascribed to CASK mutations, while few are revealed in Chinese patients. This study aims to identify the pathogenic mutation in a Chinese proband with MICPCH.Methods: A 3-year-old female Chinese proband with MICPCH and her parents were included. Clinical data were collected from the medical records and recalled by the proband’s mother. Whole genome sequencing and Sanger sequencing were used to find the pathogenic mutation of MICPCH.Results: The proband presented with postnatal progressive microcephaly, cerebellar hypoplasia, intellectual disability, motor and language development retardation and limb hypertonia. Genetic analysis indicated that there was a novel compound heterozygote nonsynonymous mutation, c.755T>C(p.Leu252Pro) in exon8 of CASK gene in the proband, but not in her parents. This CASK mutation has not been reported in other databases.Conclusion: This study broadens the mutation spectrum of the CASK gene and is of great value for precise prenatal diagnosis and genetic counseling.https://www.frontiersin.org/articles/10.3389/fgene.2022.856636/fullCASK genewhole exome sequencingmicrocephalycerebellar hypoplasiaintellectual disability |
| spellingShingle | Guilan Xie Guilan Xie Yan Zhang Wenfang Yang Liren Yang Liren Yang Ruiqi Wang Ruiqi Wang Mengmeng Xu Landi Sun Landi Sun Boxing Zhang Boxing Zhang Xiaoyi Cui Xiaoyi Cui Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia Frontiers in Genetics CASK gene whole exome sequencing microcephaly cerebellar hypoplasia intellectual disability |
| title | Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia |
| title_full | Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia |
| title_fullStr | Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia |
| title_full_unstemmed | Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia |
| title_short | Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia |
| title_sort | case report a novel cask mutation in a chinese female child with microcephaly with pontine and cerebellar hypoplasia |
| topic | CASK gene whole exome sequencing microcephaly cerebellar hypoplasia intellectual disability |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.856636/full |
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