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Your search keyword '"Congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)"' showing total 3 results
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3 results on '"Congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)"'

1. Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report

Author

Li Sun, Xiaomei Yang, Yasong Xu, Shiyu Sun, and Qichang Wu

Subjects
Whole exome sequencing (WES), PIGN gene, Glycosylphosphatidylinositol (GPI), Congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1), Fryns syndrome (FS), Gynecology and obstetrics, RG1-991
Abstract

Objective: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype–phenotype correlation. Case report: A healthy 32-year-old woman underwent an ultrasound at 13 + 5 weeks of gestation. The ultrasound revealed multiple anomalies again including cystic hygroma, omphalocele and a ventricular septal defect. The pregnancy was subsequently terminated, and whole exome sequencing revealed a novel homozygous splice site mutation in the PIGN gene c.963 G > A (p.Gln321Gln). The same variant was also detected by pedigree-based Sanger sequencing in both parents as heterozygous, while they had normal karyotypes. Conclusion: Our case report enhances the phenotype–genotype correlation associated with homozygous loss of function mutations in the PIGN gene.

Published
2021
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2. Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report

Author

Yasong Xu, Xiaomei Yang, Qichang Wu, Li Sun, and Shiyu Sun

Subjects
Pathology, medicine.medical_specialty, Prenatal diagnosis, Congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1), 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Medicine, Exome sequencing, Loss function, PIGN gene, Sanger sequencing, 030219 obstetrics & reproductive medicine, Omphalocele, Splice site mutation, business.industry, Fryns syndrome (FS), Glycosylphosphatidylinositol (GPI), Obstetrics and Gynecology, Cystic hygroma, Gynecology and obstetrics, medicine.disease, Mutation (genetic algorithm), RG1-991, symbols, business, Whole exome sequencing (WES)
Abstract

Objective We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype–phenotype correlation. Case report A healthy 32-year-old woman underwent an ultrasound at 13 + 5 weeks of gestation. The ultrasound revealed multiple anomalies again including cystic hygroma, omphalocele and a ventricular septal defect. The pregnancy was subsequently terminated, and whole exome sequencing revealed a novel homozygous splice site mutation in the PIGN gene c.963 G > A (p.Gln321Gln). The same variant was also detected by pedigree-based Sanger sequencing in both parents as heterozygous, while they had normal karyotypes. Conclusion Our case report enhances the phenotype–genotype correlation associated with homozygous loss of function mutations in the PIGN gene.

Published
2021
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3. Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report.

Author

Sun L, Yang X, Xu Y, Sun S, and Wu Q

Subjects
Abnormalities, Multiple embryology, Abnormalities, Multiple genetics, Abortion, Eugenic, Adult, Female, Genetic Association Studies, Homozygote, Humans, Pedigree, Pregnancy, Exome Sequencing, Abnormalities, Multiple diagnosis, DNA, Recombinant genetics, Loss of Function Mutation genetics, Phosphotransferases genetics, Ultrasonography, Prenatal
Abstract

Objective: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype-phenotype correlation., Case Report: A healthy 32-year-old woman underwent an ultrasound at 13 + 5 weeks of gestation. The ultrasound revealed multiple anomalies again including cystic hygroma, omphalocele and a ventricular septal defect. The pregnancy was subsequently terminated, and whole exome sequencing revealed a novel homozygous splice site mutation in the PIGN gene c.963 G > A (p.Gln321Gln). The same variant was also detected by pedigree-based Sanger sequencing in both parents as heterozygous, while they had normal karyotypes., Conclusion: Our case report enhances the phenotype-genotype correlation associated with homozygous loss of function mutations in the PIGN gene., Competing Interests: Conflicts of interest The authors have no conflicts of interest relevant to this article., (Copyright © 2021. Published by Elsevier B.V.)

Published
2021
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