scholarly journals Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome

2021 ◽  
Author(s):  
Cheng Zhang ◽  
Zhenchao Sun ◽  
Lulu Xu ◽  
Fengyuan Che ◽  
Shiguo Liu
Keyword(s):  
Joubert Syndrome ◽  
Chinese Family ◽  
Compound Heterozygous

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

Dermatology ◽  
2013 ◽  
Vol 226 (1) ◽  
pp. 68-74 ◽  
Author(s):  
Shuang Wang ◽  
Chen Tu ◽  
Yiguo Feng ◽  
Xiaopeng Wang ◽  
Dingwei Zhang ◽  
...  
Keyword(s):  
Literature Review ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

PLoS ONE ◽  
2015 ◽  
Vol 10 (4) ◽  
pp. e0124757 ◽  
Author(s):  
Xue Gao ◽  
Yu Su ◽  
Yu-Lan Chen ◽  
Ming-Yu Han ◽  
Yong-Yi Yuan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Chinese Family ◽  
Compound Heterozygous

scholarly journals Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct

2018 ◽  
Vol 12 (5) ◽  
pp. 502-506 ◽  
Author(s):  
Xuelei Zhao ◽  
Xiaohua Cheng ◽  
Lihui Huang ◽  
Xianlei Wang ◽  
Cheng Wen ◽  
...  
Keyword(s):  
Chinese Family ◽  
Compound Heterozygous ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Compound Heterozygous Mutations ◽  
I Gene

scholarly journals Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Yue Qiu ◽  
Sen Chen ◽  
Xia Wu ◽  
Wen-Juan Zhang ◽  
Wen Xie ◽  
...  
Keyword(s):  
Deaf Child ◽  
Gene Mutations ◽  
Deaf Children ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Qtc Interval ◽  
Cardiac Events ◽  
Life Threatening ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Jervell and Lange-Nielsen syndrome (JLNS) is a rare but severe autosomal recessive disease characterized by profound congenital deafness and a prolonged QTc interval (greater than 500 milliseconds) in the ECG waveforms. The prevalence of JLNS is about 1/1000000 to 1/200000 around the world. However, exceed 25% of JLNS patients suffered sudden cardiac death with kinds of triggers containing anesthesia. Approximately 90% of JLNS cases are caused by KCNQ1 gene mutations. Here, using next-generation sequencing (NGS), we identified a compound heterozygosity for two mutations c.1741A>T (novel) and c.477+5G>A (known) in KCNQ1 gene as the possible pathogenic cause of JLNS, which suggested a high risk of cardiac events in a deaf child. The hearing of this patient improved significantly with the help of cochlear implantation (CI). But life-threatening arrhythmias occurred with a trigger of anesthesia after the end of the CI surgery. Our findings extend the KCNQ1 gene mutation spectrum and contribute to the management of deaf children diagnosed with JLNS for otolaryngologists (especially cochlear implant teams).

scholarly journals Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree

2020 ◽  
Vol 40 (6) ◽  
Author(s):  
Chunli Wei ◽  
Ting Xiao ◽  
Jingliang Cheng ◽  
Jiewen Fu ◽  
Qi Zhou ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Gene Mutations ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
The Novel ◽  
Pathogenic Variants ◽  
Pathogenic Genes ◽  
Compound Heterozygous Variants ◽  
Normal Controls

Abstract As a genetically heterogeneous ocular dystrophy, gene mutations with autosomal recessive retinitis pigmentosa (arRP) in patients have not been well described. We aimed to detect the disease-causing genes and variants in a Chinese arRP family. In the present study, a large Chinese pedigree consisting of 31 members including a proband and another two patients was recruited; clinical examinations were conducted; next-generation sequencing using a gene panel was used for identifying pathogenic genes, and Sanger sequencing was performed for verification of mutations. Novel compound heterozygous variants c.G2504A (p.C835Y) and c.G6557A (p.G2186E) for the EYS gene were identified, which co-segregated with the clinical RP phenotypes. Sequencing of 100 ethnically matched normal controls didn’t found these mutations in EYS. Therefore, our study identified pathogenic variants in EYS that may cause arRP in this Chinese family. This is the first study to reveal the novel mutation in the EYS gene (c.G2504A, p.C835Y), extending its mutation spectrum. Thus, the EYS c.G2504A (p.C835Y) and c.G6557A (p.G2186E) variants may be the disease-causing missense mutations for RP in this large arRP family. These findings should be helpful for molecular diagnosis, genetic counseling and clinical management of arRP disease.

Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC

2018 ◽  
Vol 39 (4) ◽  
pp. 517-521 ◽  
Author(s):  
Nian Zhang ◽  
Juan Wang ◽  
Shuting Liu ◽  
Mugen Liu ◽  
Fagang Jiang
Keyword(s):  
Usher Syndrome ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Syndrome Type ◽  
Compound Heterozygous Mutations ◽  
Usher Syndrome Type

scholarly journals Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Sha Zhao ◽  
Zhenqing Luo ◽  
Zhenghui Xiao ◽  
Liping Li ◽  
Rui Zhao ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Cohen Syndrome ◽  
The Family ◽  
Sporadic Cases

Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. Conclusions This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

scholarly journals Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family

2019 ◽  
Vol 10 ◽  
Author(s):  
Rongrong Wang ◽  
Shirui Han ◽  
Hongyan Liu ◽  
Amjad Khan ◽  
Habulieti Xiaerbati ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1

2019 ◽  
Vol 10 ◽  
Author(s):  
Tim Ott ◽  
Lilian Kaufmann ◽  
Martin Granzow ◽  
Katrin Hinderhofer ◽  
Claus R. Bartram ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Compound Heterozygous ◽  
Human Patient ◽  
Compound Heterozygous Variants

scholarly journals Compound heterozygous variants of the FBXO7 gene resulting in infantile‐onset Parkinsonian‐pyramidal syndrome in siblings of a Chinese family

2020 ◽  
Vol 34 (8) ◽  
Author(s):  
Xiaohua Jin ◽  
Lisha An ◽  
Shengju Hao ◽  
Qian Liu ◽  
Qinhua Zhang ◽  
...  
Keyword(s):  
Chinese Family ◽  
Compound Heterozygous ◽  
Pyramidal Syndrome ◽  
Compound Heterozygous Variants
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