A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family

2015 ◽  
Vol 79 (4) ◽  
pp. 553-556 ◽  
Author(s):  
Azadeh Keivani ◽  
Asieh Haghighat-Nia ◽  
Esmat Fazel-Najafabadi ◽  
Majid Hosseinzadeh ◽  
Mansoor Salehi
Keyword(s):  
Hearing Loss ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
Iranian Family

scholarly journals A novel compound heterozygous mutation of SLC26A4 in two Chinese families with nonsyndromic hearing loss and enlarged vestibular aqueducts

2017 ◽  
Vol 16 (6) ◽  
pp. 9011-9016 ◽  
Author(s):  
Guang-Jie Zhu ◽  
Lu-Sen Shi ◽  
Han Zhou ◽  
Ye Yang ◽  
Jie Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
Chinese Families

Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 142S-147S ◽  
Author(s):  
Aya Ichinose ◽  
Hideaki Moteki ◽  
Mitsuru Hattori ◽  
Shin-ya Nishio ◽  
Shin-ichi Usami
Keyword(s):  
Hearing Loss ◽  
Massively Parallel Sequencing ◽  
Autosomal Recessive Inheritance ◽  
Japanese Patients ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Coding Region ◽  
Novel Mutations ◽  
First Case

Objective: We present a patient who was identified with novel mutations in the LRTOMT gene and describe the clinical features of the phenotype including serial audiological findings. Methods: One hundred six Japanese patients with mild to moderate sensorineural hearing loss from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss. Results: Compound heterozygotes with a novel frame-shift mutation and a missense mutation were identified in the LRTOMT gene. The mutated residues were segregated in both alleles of LRTOMT, present within the LRTOMT2 protein coding region. The patient had moderate sloping hearing loss at high frequencies, which progressed at 1000 Hz and higher frequencies over a period of 6 years. Conclusion: Hearing loss caused by mutations in the LRTOMT gene is extremely rare. This is the first case report of a compound heterozygous mutation in a nonconsanguineous family.

scholarly journals A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family

2018 ◽  
Vol 12 (5) ◽  
pp. 470-475 ◽  
Author(s):  
Haiou Jiang ◽  
Youya Niu ◽  
Lingfeng Qu ◽  
Xueshuang Huang ◽  
Xinlong Zhu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Compound Heterozygous Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Syndromic Hearing Loss ◽  
I Gene

scholarly journals Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 184S-192S ◽  
Author(s):  
Naoko Sakuma ◽  
Hideaki Moteki ◽  
Hela Azaiez ◽  
Kevin T. Booth ◽  
Masahiro Takahashi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Manifestations ◽  
Vestibular Dysfunction ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Caloric Test ◽  
Compound Heterozygous ◽  
Site Mutation ◽  
Vestibular Evoked Myogenic Potential ◽  
Phenotypic Features

Objectives: We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features. Methods: Two hundred twenty (220) Japanese subjects with SNHL from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment with massively parallel DNA sequencing of all known nonsyndromic hearing loss genes was performed to identify the genetic cause of hearing loss. Results: Four novel causative PTPRQ mutations were identified in 3 cases. Case 1 had progressive profound SNHL with a homozygous nonsense mutation. Case 2 had nonprogressive profound SNHL with a compound heterozygous mutation (nonsense and missense mutation). Case 3 had nonprogressive moderate SNHL with a compound heterozygous mutation (missense and splice site mutation). Caloric test and vestibular evoked myogenic potential (VEMP) test showed vestibular dysfunction in Case 1. Conclusion: Hearing loss levels and progression among the present cases were varied, and there seem to be no obvious correlations between genotypes and the phenotypic features of their hearing loss. The PTPRQ mutations appeared to be responsible for vestibular dysfunction.

scholarly journals A novel compound heterozygous mutation in the GJB2 gene causing non-syndromic hearing loss in a family

2013 ◽  
Vol 33 (2) ◽  
pp. 310-316 ◽  
Author(s):  
QINJUN WEI ◽  
YOUGUO LIU ◽  
SHUAI WANG ◽  
TINGTING LIU ◽  
YAJIE LU ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gjb2 Gene ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Syndromic Hearing Loss

Novel compound heterozygous mutation in ASXL3 causing bainbridge-ropers syndrome and primary IGF1 deficiency: Expanding phenotype

2016 ◽  
Author(s):  
Dinesh Giri ◽  
Astrid Weber ◽  
Mohammed Didi ◽  
Matthew Peak ◽  
Paul McNamara ◽  
...  
Keyword(s):  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Igf1 Deficiency

scholarly journals A Novel Compound Heterozygous Mutation in ABCB4 Gene Leading to Cholelithiasis, Progressive Familial Intrahepatic Cholestasis (Type 3), and Cirrhosis in a Child

2020 ◽  
Vol 10 (01) ◽  
pp. e134-e136
Author(s):  
Nida Mirza ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Intrahepatic Cholestasis ◽  
Gall Stone ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Initial Symptom ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Presenting Symptoms ◽  
Abcb4 Gene ◽  
Type 3

AbstractProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders of childhood which presents with intermittent or progressive episodes of cholestasis, with jaundice and pruritus as most common presenting symptoms. PFIC type 3 occurs due to mutations in the ABCB4 gene, mutation in this gene has wide spectrum of features which include intrahepatic stones, cholelithiasis, PFIC type 3, and intrahepatic cholestasis of pregnancy. Here, we are reporting a peculiar case of young male adolescent with novel variant compound heterozygote missense mutation in ABCB4 gene who had gall stone as initial symptom, followed by symptoms of PFIC and eventually decompensated chronic liver disease.

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