Literature DB >> 24605291

Preimplantation genetic diagnosis: its role in prevention of deafness.

M K Taneja1.   

Abstract

Deafness is a global problem. In India deafness ranges from 4 % in urban to 11 % in rural and slum areas, out of which 50 % is conductive hearing loss hence curable. Genetic transmission accounts for 50 % of the cases of congenital deafness, and of these, around 30 % are syndromic and 70 % are non-syndromic. Genetic counseling is going to make aware the parents of all appropriate treatments. Preimplantation genetic diagnosis can help to have a baby free from genetic deafness. Procedure is almost safe, harmless, non-invasive and ethically acceptable. While Amniocentesis is a non-invasive method, prenatal genetic testing through Chorionic villous sampling is invasive. The connexin 26 (CX26W 24X) mutations are the most common cause of non-syndromic hearing loss and easy to identify by polymerase chain reaction. There is always co-morbidity after cochlear implantation and the person remains handicapped while baby after PGD shall be having healthy normal life and person prone to environmental factors may be counseled and guided to prevent deafness in next generation. Public must be made aware of noise pollution, tobacco toxicity and consanguinity. The Obstetrician and Pediatrician apart from ENT surgeon should be involved to prevent antenatal or neonatal deafness.

Entities:  

Keywords:  Genetic diagnosis; National deafness programme; Preimplantation; Sensorineural deafness

Year:  2014        PMID: 24605291      PMCID: PMC3938703          DOI: 10.1007/s12070-014-0711-9

Source DB:  PubMed          Journal:  Indian J Otolaryngol Head Neck Surg        ISSN: 2231-3796


  11 in total

1.  Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

Authors:  F J del Castillo; M Rodríguez-Ballesteros; Y Martín; B Arellano; J Gallo-Terán; C Morales-Angulo; R Ramírez-Camacho; M Cruz Tapia; J Solanellas; A Martínez-Conde; M Villamar; M A Moreno-Pelayo; F Moreno; I del Castillo
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

2.  Over a decade of experience with preimplantation genetic diagnosis.

Authors:  Yury Verlinsky; Jacques Cohen; Santiago Munne; Luca Gianaroli; Joe Leigh Simpson; Anna Pia Ferraretti; Anver Kuliev
Journal:  Fertil Steril       Date:  2004-08       Impact factor: 7.329

3.  Genetic testing of embryos: a critical need for data.

Authors:  Susannah Baruch; G David Adamson; Jacques Cohen; William E Gibbons; Mark R Hughes; Anver Kuliev; Santiago Munné; Robert W Rebar; Joe Leigh Simpson; Yury Verlinsky; Kathy L Hudson
Journal:  Reprod Biomed Online       Date:  2005-12       Impact factor: 3.828

4.  Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.

Authors:  Gheona Altarescu; Talia Eldar-Geva; Baruch Brooks; Edith Zylber-Haran; Irit Varshaver; Ehud J Margalioth; Ephrat Levy-Lahad; Paul Renbaum
Journal:  J Assist Reprod Genet       Date:  2009-07       Impact factor: 3.412

5.  Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Authors:  Sadaf Naz; Chantal M Giguere; David C Kohrman; Kristina L Mitchem; Saima Riazuddin; Robert J Morell; Arabandi Ramesh; Srikumari Srisailpathy; Dilip Deshmukh; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Richard J H Smith; Edward R Wilcox
Journal:  Am J Hum Genet       Date:  2002-07-24       Impact factor: 11.025

Review 6.  Deafness genes and their diagnostic applications.

Authors:  Kim Cryns; Guy Van Camp
Journal:  Audiol Neurootol       Date:  2004 Jan-Feb       Impact factor: 1.854

7.  Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

Authors:  M RamShankar; S Girirajan; O Dagan; H M Ravi Shankar; R Jalvi; R Rangasayee; K B Avraham; A Anand
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

8.  Preimplantation genetic diagnosis and deafness.

Authors:  M K Taneja
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2012-06-30

Review 9.  Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Authors:  R Rabionet; P Gasparini; X Estivill
Journal:  Hum Mutat       Date:  2000-09       Impact factor: 4.878

10.  Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis.

Authors:  Pamela J Renwick; Jane Trussler; Elham Ostad-Saffari; Hiva Fassihi; Cheryl Black; Peter Braude; Caroline Mackie Ogilvie; Stephen Abbs
Journal:  Reprod Biomed Online       Date:  2006-07       Impact factor: 3.828

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  2 in total

1.  Deafness, a Social Stigma: Physician Perspective.

Authors:  M K Taneja
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2014-09-23

2.  Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform.

Authors:  Yan Hao; Dawei Chen; Zhiguo Zhang; Ping Zhou; Yunxia Cao; Zhaolian Wei; Xiaofeng Xu; Beili Chen; Weiwei Zou; Mingrong Lv; Dongmei Ji; Xiaojin He
Journal:  Oncol Lett       Date:  2018-01-26       Impact factor: 2.967

  2 in total

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