scholarly journals Molecular Diagnosis and Prenatal Counseling of a Chinese Family with Spondyloepiphyseal Dysplasia congenital

2021 ◽  
Author(s):  
Lihong Fan ◽  
Yuqing Xu ◽  
Guosong Shen ◽  
Xueping Shen ◽  
Kefeng Tang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
Sanger Sequencing ◽  
Chromosome Analysis ◽  
Type Ii Collagen ◽  
Chinese Family ◽  
Prenatal Counseling ◽  
Targeted Next Generation Sequencing ◽  
Spondyloepiphyseal Dysplasia ◽  
Next Generation Sequencing Ngs

Abstract Aim: To identify the gene mutation and complete prenatal counseling in a Chinese family with spondyloepiphyseal dysplasia congenital (SEDC). Materials and Methods: A Chinese family with SEDC was enrolled. Their detailed clinical features, skeletal radiographic features, and laboratory results were obtained. The peripheral blood samples of the family members were used for the targeted next-generation sequencing (NGS), and Sanger sequencing confirmation. Bioinformatics analysis and genotype-phenotype correlation analysis were used to identify the gene mutation. Amniocentesis, fetal chromosome analysis and Sanger sequencing were completed for prenatal diagnosis. Results: A missense mutation c.3392G>T (p. Gly1131Val) of COL2A1 was found in the proband and the fetus. The mutation was confirmed to be likely pathogenic and would damage the structure of stable triple-helical type II collagen. Conclusion: A novel pathogenic c.3392G>T (p. Gly1131Val) mutation in COL2A1 leading to SEDC was identified, which expanded the genotypic spectrum and phenotypic spectrum of SEDC. In addition, we wish to emphasize that prenatal diagnosis and genetic counseling should be carried out in a family with SEDC for better procreative management.

scholarly journals Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Jingjing Xiang ◽  
Lili Zhang ◽  
Wei Jiang ◽  
Qin Zhang ◽  
Ting Wang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Sanger Sequencing ◽  
Missense Variant ◽  
Joubert Syndrome ◽  
Prenatal Ultrasound ◽  
Resonance Imaging ◽  
Targeted Next Generation Sequencing ◽  
Magnetic Resonance Imaging Mri ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Objective. To diagnose and explore the genetic cause of Joubert syndrome (JS) in a fetus. Methods. Prenatal ultrasound and magnetic resonance imaging (MRI) examinations were performed, and genetic analysis was conducted using targeted next-generation sequencing (NGS) and Sanger sequencing. Results. Prenatal ultrasound and MRI examinations showed cerebellar vermis hypoplasia and molar tooth sign (MTS); hence the fetus was diagnosed with JS. Further genetic analysis revealed a known missense variant (c.3599C>T, p.A1200V) and a novel missense variant (c.3857G>A, p.R1286H) in the C5orf42 gene of the fetus. Conclusion. Our study provides insights into prenatal and early diagnosis of JS and expands the variation spectrum of C5orf42 gene.

scholarly journals Detection and validation of six pathogenic variants in Chinese inherited heart disease patients using clinical whole-exome sequencing

2021 ◽  
Author(s):  
Lichao Cao ◽  
Fei Ye ◽  
Shuqi Xie ◽  
Ying Ba ◽  
Ying Zeng ◽  
...  
Keyword(s):  
Heart Disease ◽  
Next Generation Sequencing ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Targeted Next Generation Sequencing ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

The targeted next-generation sequencing (NGS) was employed in detecting the pathogenic mutations in inherited heart disease patients in the present study. Two main methods, the NGS and the classic Sanger sequencing, were used in this study. And, the whole-exome sequencing (WES) was specifically used in this study.

scholarly journals A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Xueling Wang ◽  
Longhao Wang ◽  
Hu Peng ◽  
Tao Yang ◽  
Hao Wu
Keyword(s):  
Sanger Sequencing ◽  
Pcr Amplification ◽  
Homozygous Mutation ◽  
Frequent Mutation ◽  
Nonsyndromic Deafness ◽  
Chinese Han ◽  
Targeted Next Generation Sequencing ◽  
Targeted Ngs ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Genetic hearing impairment is highly heterogeneous. In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. Consistent with the recessive inheritance, cosegregation of the p.G141R variant with the hearing loss was confirmed in members of both families by PCR amplification and Sanger sequencing. SNP genotyping analysis suggested that those two families were not closely related. Our study showed that targeted NGS is an effective tool for diagnosis of genetic deafness and that p.G141R in ILDR1 may be a relatively frequent mutation for DFNB42 in Chinese Hans.

scholarly journals Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation

Medicine ◽  
2017 ◽  
Vol 96 (50) ◽  
pp. e8814 ◽  
Author(s):  
Tao Li ◽  
Zhao-jing Zhang ◽  
Xin Ma ◽  
Xue Lv ◽  
Hai Xiao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
De Novo ◽  
Chinese Family ◽  
Dmd Gene

scholarly journals A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2

2021 ◽  
pp. 1-6
Author(s):  
Ying Li ◽  
Yajuan Xu ◽  
Genxia Li ◽  
Kang Chen ◽  
Haiyang Yu ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Genetic Disorder ◽  
Chinese Family ◽  
Waardenburg Syndrome ◽  
Targeted Next Generation Sequencing ◽  
The Family ◽  
Novel Variants ◽  
Abnormal Pigmentation ◽  
Generation Sequencing

Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation involving the hair, skin and iris. WS is classified into 4 subtypes (WS1–WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms and is mainly attributed to variants in the microphthalmia-associated transcription factor (<i>MITF</i>) gene. We detected a novel frameshift variant c.1025_1032delGGAACAAG (NM_198159) of <i>MITF</i> in 5 patients with WS2 from the same Chinese family by using targeted next-generation sequencing and Sanger sequencing. Phenotypic and genotypic analyses of the family members suggested that this novel variants was pathogenic. Our finding expands the spectrum of <i>MITF</i> variants.

scholarly journals Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yan Wang ◽  
Yuhan Chen ◽  
San Mei Wang ◽  
Xin Liu ◽  
Ya Nan Gu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sanger Sequencing ◽  
De Novo ◽  
Novel Mutation ◽  
Neuromuscular Disorders ◽  
Genetic Diagnosis ◽  
Dystrophin Gene ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Dmd Gene

Abstracts Background Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient care and treatment. In this study, we described a Chinese family with mosaic DMD mutations and discussed the best method for prenatal diagnosis and genetic counseling of X-linked familial disorders. Methods We investigated all variants of the whole dystrophin gene using multiple DNA samples isolated from the affected family and identified two variants of the DMD gene in a sick boy and two female carriers by targeted next generation sequencing (TNGS), Sanger sequencing, and haplotype analysis. Results We identified the hemizygous mutation c.6794delG (p.G2265Efs*6) of DMD in the sick boy, which was inherited from his mother. Unexpectedly, a novel heterozygous mutation c.6796delA (p.I2266Ffs*5) of the same gene, which was considered to be a de novo variant, was detected from his younger sister instead of his mother by Sanger sequencing. However, further NGS analysis of the mother and her amniotic fluid samples revealed that the mother carried a low-level mosaic c.6796delA mutation. Conclusions We reported two different mutations of the DMD gene in two siblings, including the novel mutation c.6796delA (p.I2266Ffs*5) inherited from the asymptomatic mosaic-carrier mother. This finding has enriched the knowledge of the pathogenesis of DMD. If no mutation is detected in obligate carriers, the administration of intricate STR/NGS/Sanger analysis will provide new ideas on the prenatal diagnosis of DMD.

scholarly journals Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ine Strubbe ◽  
Caroline Van Cauwenbergh ◽  
Julie De Zaeytijd ◽  
Sarah De Jaegere ◽  
Marieke De Bruyne ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Somatic Mosaicism ◽  
Retinal Disease ◽  
Hair Follicles ◽  
Disease Genes ◽  
Female Carrier ◽  
Autofluorescence Imaging ◽  
Targeted Next Generation Sequencing ◽  
Whole Exome ◽  
Next Generation Sequencing Ngs

AbstractWe describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP) carrier phenotype in their mother. Two affected sons, two unaffected daughters, and their mother underwent detailed ophthalmological assessments including Goldmann perimetry, color vision testing, multimodal imaging and ISCEV-standard electroretinography. Genetic testing consisted of targeted next-generation sequencing (NGS) of known XLRP genes and whole exome sequencing (WES) of known inherited retinal disease genes (RetNet-WES). Variant validation and segregation analysis were performed by Sanger sequencing. The mutational load of the RHO variant in the mother was assessed in DNA from leucocytes, buccal cells and hair follicles using targeted NGS. Both affected sons showed signs of classical RP, while the mother displayed patches of hyperautofluorescence on blue light autofluorescence imaging and regional, intraretinal, spicular pigmentation, reminiscent of a carrier phenotype of XLRP. XLRP testing was negative. RetNet-WES testing revealed RHO variant c.404G > C p.(Arg135Pro) in a mosaic state (21% of the reads) in the mother and in a heterozygous state in both sons. Targeted NGQSS of the RHO variant in different maternal tissues showed a mutation load between 25.06% and 41.72%. We report for the first time that somatic mosaicism of RHO variant c.404G > C p.(Arg135Pro) mimics the phenotype of a female carrier of XLRP, in combination with heterozygosity for the variant in the two affected sons.

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