An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

نویسندگان

  • K Fukushima
  • A Ramesh
  • C R Srisailapathy
  • L Ni
  • S Wayne
  • M E O'Neill
  • G Van Camp
  • P Coucke
  • P Jain
  • E R Wilcox
  • S D Smith
  • J B Kenyon
  • R I Zbar
  • R J Smith
چکیده

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of congenitally acquired inherited hearing impairment. Although numerous loci are believed to exist, only five have been identified. Using a pooled genomic DNA screening strategy, we have identified a sixth locus, DFNB6, on 3p in the interval bounded by D3S1619 and D3S1766.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene

Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...

متن کامل

بررسی اطلاع‌دهندگی مارکر D9S1876 واقع در ناحیه ژنTMC1 در جمعیت ایرانی

Background and Objective: TMC1 gene mutations are known as the most common causes of autosomal recessive non-syndromic hearing loss (ARNSHL) in different populations. According to large size of the TMC1 gene and the large number of identified mutations in this gene, application of polymorphic markers is suggested for carrier detection and prenatal diagnosis in families. In this study, informati...

متن کامل

Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family

Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...

متن کامل

Investigation of the GJB6 Deletion Mutations Del (GJB6- D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)

Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11–22. The two genes, GJB2 and GJB6, are closely located on chromosome and are known to be co-expressed in the embryonic cochlea. Deletion mutations involving GJB6 were associated with autosomal-recessive nonsyndromic heari...

متن کامل

A Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) Analysis of Connexin 26 (GJB2) Gene Common Mutation (235delC) In Indonesian Patients with Prelingual Nonsyndromic Sensorineural Hearing Loss: A Preliminary Study

Background: Inherited hearing impairment affects about 1 in 1000 newborns. Up to 50 percent of all patients with autosomal recessive nonsyndromic prelingual deafness in many populations have mutations in the gene encoding the gap junction protein connexin 26 (GJB2) at locus DFNB1 (autosomal recessive nonsyndromic deafness) on chromosome 13q11-12. In East Asia, there is a common mutation (235del...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Genome research

دوره 5 3  شماره 

صفحات  -

تاریخ انتشار 1995