Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population
نویسندگان
چکیده
منابع مشابه
[Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population].
OBJECTIVES To investigate the prevalence of the 35delG mutation in a newborn population, with specific molecular testing, and to evaluate the prospects for genetic neonatal screening for hearing impairment. POPULATION AND METHOD 233 newborn were evaluated at the Hospital de Base de São José do Rio Preto, SP, for molecular analysis of the 35delG mutation in the connexin 26 gene, with the react...
متن کاملRelative Frequency of 35delG Mutation in GJB2 Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population
Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf p...
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Objectives: In September 2002 University of Social Welfare & Rehabilitation Sciences established a pilot universal newborn hearing screening program in two crowded maternity hospital in Tehran. Our objective was to assess the feasibility of implementing universal newborn hearing screening in IRAN. Methods: Between September 2002 and March 2004 a total of 7718 newborns were screened for heari...
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Introduction: Hearing loss is the most frequent sensory disorder occurs in 1/1000 newborns. About 50% of hearing loss cases are due to genetic causes. Mutation in MTRNR1(A1555G), MTTL1(A3243G) and MTTS1(A7445G) are known to be one of the important cause of nonsyndromic Sensorineural hearing loos in some populations. This study aims to demonstrate the frequency of three mitochondrial mutatio...
متن کاملOutcome of screening for hearing impairment in the newborn – a hospital-based study
Background: Loss of hearing is a non-visible disability (NVD) and the second most common congenital pathology. Apart from hearing loss, further disability in these domains has been reported like development of language, speech, cognition, and other evolving domains. These can be prevented by early identification and intervention. The aim of this study was to assess the outcomes of neonatal hear...
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ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 2005
ISSN: 0021-7557
DOI: 10.2223/jped.1319