scholarly journals Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1

2017 ◽  
Vol 21 (7) ◽  
pp. 1388-1393 ◽  
Author(s):  
Pengzhi Hu ◽  
Song Wu ◽  
Lamei Yuan ◽  
Qiongfen Lin ◽  
Wen Zheng ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Chinese Family ◽  
Compound Heterozygous

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 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 Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Evelina Siavrienė ◽  
Gunda Petraitytė ◽  
Birutė Burnytė ◽  
Aušra Morkūnienė ◽  
Violeta Mikštienė ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Premature Termination Codon ◽  
Limb Girdle Muscular Dystrophy ◽  
Lower Limbs ◽  
Compound Heterozygous ◽  
Targeted Next Generation Sequencing ◽  
Splicing Variant ◽  
Cdna Analysis ◽  
Compound Heterozygous Variants

Abstract Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene are known genetic causes of this condition. The aim of this study was to confirm the molecular consequences of the CAPN3 variant NG_008660.1(NM_000070.3):c.1746-20C > G of an individual with suspected LGMDR1 by extensive complementary DNA (cDNA) analysis. Case presentation In the present study, we report on a male with proximal muscular weakness in his lower limbs. Compound heterozygous NM_000070.3:c.598_612del and NG_008660.1(NM_000070.3):c.1746-20C > G genotype was detected on the CAPN3 gene by targeted next-generation sequencing (NGS). To confirm the pathogenicity of the variant c.1746-20C > G, we conducted genetic analysis based on Sanger sequencing of the proband’s cDNA sample. The results revealed that this splicing variant disrupts the original 3′ splice site on intron 13, thus leading to the skipping of the DNA fragment involving exon 14 and possibly exon 15. However, the lack of exon 15 in the CAPN3 isoforms present in a blood sample was explained by cell-specific alternative splicing rather than an aberrant splicing mechanism. In silico the c.1746-20C > G splicing variant consequently resulted in frameshift and formation of a premature termination codon (NP_000061.1:p.(Glu582Aspfs*62)). Conclusions Based on the results of our study and the literature we reviewed, both c.598_612del and c.1746-20C > G variants are pathogenic and together cause LGMDR1. Therefore, extensive mRNA and/or cDNA analysis of splicing variants is critical to understand the pathogenesis of the disease.

scholarly journals Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

PLoS ONE ◽  
2013 ◽  
Vol 8 (5) ◽  
pp. e63026 ◽  
Author(s):  
Xue Gao ◽  
Yu Su ◽  
Li-Ping Guan ◽  
Yong-Yi Yuan ◽  
Sha-Sha Huang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Chinese Family ◽  
Compound Heterozygous

scholarly journals Novel Mutations and Mutation Combinations ofTMPRSS3Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Xue Gao ◽  
Yong-Yi Yuan ◽  
Guo-Jian Wang ◽  
Jin-Cao Xu ◽  
Yu Su ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Novel Mutations ◽  
Pathogenic Mutations ◽  
Compound Heterozygous Mutations

Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in theTMPRSS3gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8).TMPRSS3mutations can be classified as mild or severe, and the phenotype is dependent on the combination ofTMPRSS3mutations. The combination of two severe mutations leads to profound hearing impairment with a prelingual onset, whereas severe mutations in combination with milderTMPRSS3mutations lead to a milder phenotype with postlingual onset. We characterized a Chinese family (number FH1523) with not only prelingual but also postlingual hearing impairment. Three mutations inTMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs⁎12)], and two previously reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys), were identified. Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12). We concluded that different combinations ofTMPRSS3mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in this family.

scholarly journals Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family

2016 ◽  
Vol 36 (1) ◽  
Author(s):  
Xin Jin ◽  
Ling-Hui Qu ◽  
Bao-Ke Hou ◽  
Hai-Wei Xu ◽  
Xiao-Hong Meng ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Protein Product ◽  
Compound Heterozygous Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Rod Photoreceptors ◽  
Gene Coding ◽  
Compound Mutation

A novel compound mutation in CNGA1 gene, coding for the cGMP-gated ion channel protein, results in a protein product that is not targeted to the plasma membrane, which would be deleterious to rod photoreceptors leading to retinitis pigmentosa (RP).

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