scholarly journals Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families

2017 ◽  
Vol 38 (11) ◽  
pp. 1456-1465 ◽  
Author(s):  
Xiao-ya Zhang ◽  
Jin-wei He ◽  
Wen-zhen Fu ◽  
Chun Wang ◽  
Zhen-lin Zhang
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Mild Phenotype ◽  
Chinese Families ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Erratum to: Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

2012 ◽  
Vol 23 (11) ◽  
pp. 2719-2719
Author(s):  
A. Pangrazio ◽  
M. E. Caldana ◽  
N. Lo Iacono ◽  
S. Mantero ◽  
P. Vezzoni ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Autosomal Recessive Osteopetrosis

scholarly journals RANK‐dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

2012 ◽  
Vol 27 (2) ◽  
pp. 342-351 ◽  
Author(s):  
Alessandra Pangrazio ◽  
Barbara Cassani ◽  
Matteo M Guerrini ◽  
Julie C Crockett ◽  
Veronica Marrella ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families

2021 ◽  
Vol 752 ◽  
pp. 135831
Author(s):  
Zhanjun Wang ◽  
Yang Song ◽  
Xianling Wang ◽  
Xuying Li ◽  
Fanxi Xu ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Chinese Families ◽  
Spastic Ataxia

scholarly journals Novel Variants in Phosphodiesterase 6A and Phosphodiesterase 6B Genes and Its Phenotypes in Patients With Retinitis Pigmentosa in Chinese Families

2021 ◽  
Author(s):  
Yuyu Li ◽  
Ruyi Li ◽  
Hehua Dai ◽  
Genlin Li
Keyword(s):  
Retinitis Pigmentosa ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Eye Disease ◽  
Specific Enzyme ◽  
Novel Mutations ◽  
Chinese Families ◽  
Novel Variants

Abstract Background: Retinitis pigmentosa (RP) is a genetically heterogeneous disease with 65 causative genes identified to date. However, only approximately 60% of RP cases genetically solved to date, predicating that many novel disease-causing variants are yet to be identified. The purpose of this study is to identify novel variants in phosphodiesterase 6A and phosphodiesterase 6B genes and present its phenotypes in patients with retinitis pigmentosa in Chinese families.Methods: Five retinitis pigmentosa patients with PDE6A variants and three with PDE6B variants were identified through a hereditary eye disease enrichment panel (HEDEP), all patients’ medical and ophthalmic histories were collected, and ophthalmological examinations were performed, then we analysed the possible causative variants. Sanger sequencing was used to verify the variants.Results: We identified 20 mutations sites in eight patients, two heterozygous variants were identified per patient of either PDE6A or PDE6B variants, others are from CA4, OPTN, RHO, ADGRA3 variants. We identified two novel variants in PDE6A: c.1246G > A;p.(Asp416Asn) and c.1747T > A;p.(Tyr583Asn). Three novel mutations in PDE6B: c.401T > C;p.(Leu134Pro), c.2293G > C;p.(Ala765Pro) and c.1610-1612del;p.(537-538del).CA4: c.243G > A;p.(Trp81*) and RHO: c.688G>A;p.(Val230Ile) are novel variants and maybe affecting the phenotype. Among them, c.401T > C;p.(Leu134Pro) variant in PDE6B is non- pathogenic; RHO: c.688G>A;p.(Val230Ile) is conflicting interpretations of pathogenicity;Other novel variants are all pathogenic.Conclusions: This study reveals novel and known variants in Chinese families with PDE6A and PDE6B mutations in autosomal recessive RP, expanding the clinical and genetic findings of photoreceptor-specific enzyme deficiencies.

scholarly journals Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families

2020 ◽  
Vol 2020 ◽  
pp. 1-9 ◽  
Author(s):  
Xiaohui Bai ◽  
Chi Zhang ◽  
Fengguo Zhang ◽  
Yun Xiao ◽  
Yu Jin ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Corneal Dystrophy ◽  
Underlying Mechanism ◽  
Nonsyndromic Hearing Loss ◽  
Novel Mutations ◽  
Chinese Families ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing ◽  
Autosomal Recessive Pattern

Hearing loss is one of the most common sensory disorders in newborns and is mostly caused by genetic factors. Autosomal recessive nonsyndromic hearing loss (ARNSHL) is usually characterized as a severe-to-profound congenital sensorineural hearing loss and later can cause various degrees of defect in the language and intelligent development of newborns. The mutations in LOXHD1 gene have been shown to cause DFNB77, a type of ARNSHL. To date, there are limited reports about the association between LOXHD1 gene and ARNSHL. In this study, we reported six patients from four Chinese families suffering from severe-to-profound nonsyndromic hearing loss. We performed targeted next generation sequencing in the six affected members and identified five novel pathogenic mutations in LOXHD1 including c.277G>A (p.D93N), c.611-2A>T, c.1255+3A>G, c.2329C>T (p.Q777∗), and c.5888delG (p.G1963Afs∗136). These mutations were confirmed to be cosegregated with the hearing impairment in the families by Sanger sequencing and were inherited in an autosomal recessive pattern. All of the five mutations were absent in 200 control subjects. There were no symptoms of Fuchs corneal dystrophy in the probands and their blood-related relatives. We concluded that these five novel mutations could be involved in the underlying mechanism resulting in the hearing loss, and this discovery expands the genotypic spectrum of LOXHD1 mutations.

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

2012 ◽  
Vol 23 (11) ◽  
pp. 2713-2718 ◽  
Author(s):  
A. Pangrazio ◽  
M. E. Caldana ◽  
N. L. Iacono ◽  
S. Mantero ◽  
P. Vezzoni ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Autosomal Recessive Osteopetrosis
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