Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss
نویسندگان
چکیده
منابع مشابه
HEARING LOSS IN HEMODIALYSIS PATIENTS
Inner ear cells are sensitive to some metabolic and hormonal disorders, but the relation between chronic renal failure (CRF), regular dialysis treatment (RDT) and sensorineural hearing loss (SNHL) is still a debatable field. The object of this paper was to verify the presence of SNHL in patients submitted to hemodialysis with different duration due to CRF and in those submitted to conservat...
متن کاملIdentification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss
Autosomal recessive non-syndromic hearing loss (ARNSHL) is defined as a genetically heterogeneous disorder. The aim of the present study was to screen for pathogenic variants in an Iranian pedigree with ARNSHL. Next-generation targeted sequencing of 127 deafness genes in the proband detected two novel variants, a homozygous missense variant in PTPRQ (c.2599 T>C, p.Ser867Pro and a heterozygous m...
متن کاملPrevalence of Sensorineural Hearing Loss in Patients with Congenital Hypothyroidism in Qazvin, Iran (2015)
Background: Congenital hypothyroidism increases the risk of sensorineural hearing loss (SNHL). Children with hearing impairment are prone to communication disorders. The present study aimed to determine the prevalence of SNHL in patients with congenital hypothyroidism in Qazvin, Iran. Methods: This cross-sectional study was conducted on children with transient or permanent congenital hypothyroi...
متن کاملEvaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
متن کاملHearing Loss Related Quality of Life in Adolescents with Hearing Loss
Objectives: Quality of life, when referring to an individual’s health, is called health-related quality of life. The purpose of this study is to assess self-perceived hearing loss related quality of life of adolescents with hearing loss and its relationship with sex, age sub-groups or school settings with domains of quality of life. Methods: A school based survey was conducted in Tehra...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Annals of Otology, Rhinology & Laryngology
سال: 2015
ISSN: 0003-4894,1943-572X
DOI: 10.1177/0003489415575041