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The First Successful Application of Preimplantation Genetic Diagnosis for Hearing Loss in Iran Publisher



Yazdi AK1, 2 ; Davoudidehaghani E3 ; Anari MR1, 2 ; Fouladi P3 ; Ebrahimi E5 ; Sabeghi S3 ; Eftekharian A6 ; Fatemi KS3 ; Emami H1, 2 ; Sharifi Z3 ; Ramezanzadeh F7 ; Tajdini A8 ; Zeinali S3, 4 ; Amanpour S7
Authors
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Authors Affiliations
  1. 1. Otorhinolaryngology Research Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Valiasr Hospital, Imam Khomeini Hospital Complex, Iran
  3. 3. Kawsar Human Genetics Research Center, Tehran, Iran
  4. 4. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
  5. 5. Cancer Biology Research Center, Cancer Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Otolaryngology Department, Loghman Hospital, Beheshti University of Medical Sciences, Tehran, Iran
  7. 7. Vali-e-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Otolaryngology Department, Amiralam Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: Cellular and Molecular Biology Published:2018


Abstract

Hearing impairment (HI) caused by mutations in the connexin-26 gene (GJB2) accounts for the majority of cases with inherited, nonsyndromic sensorineural hearing loss. Due to the illegality of the abortion of deaf fetuses in Islamic countries, preimplantation genetic diagnosis (PGD) is a possible solution for afflicted families to have a healthy offspring. This study describes the first use of PGD for GJB2 associated non-syndromic deafness in Iran. GJB2 donor splicing site IVS1+1G>A mutation analysis was performed using Sanger sequencing for a total of 71 Iranian families with at least 1 deaf child diagnosed with non-syndromic deafness. In Vitro Fertilization (IVF) was performed, followed by PGD for a cousin couple with a 50% chance of having an affected child. Bi-allelic pathogenic mutations were found in a total of 12 families (~17 %); of which a couple was a PGD volunteer. The deaf woman in this family was homozygous and her husband was a carrier of the IVS1+1G>A gene mutation. Among 8 biopsied embryos, two healthy embryos were implanted which resulted in a single pregnancy and subsequent birth of a healthy baby boy. This is the first report of a successful application of PGD for hearing loss in Iran. Having a baby with a severe hearing impairment often imposes families with long-term disease burden and heavy therapy costs. Today PGD has provided an opportunity for high-risk individuals to avoid the birth of a deaf child. © 2018 by the C.M.B. Association. All rights reserved.
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1. Gjb2 C.−23+1G>A Mutation Is Second Most Common Mutation Among Iranian Individuals With Autosomal Recessive Hearing Loss, European Archives of Oto-Rhino-Laryngology (2015)
2. Mutation Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Central Iran, International Journal of Pediatric Otorhinolaryngology (2015)
3. Specific Distribution of Gjb2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population, Journal of Sciences# Islamic Republic of Iran (2017)
4. Mutations in Gjb2 As Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of C.299-300Delat Mutation in Kurdish Population of Iran, Journal of Audiology and Otology (2019)
5. A Novel Pathogenic Variant in the Lrtomt Gene Causes Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Family, BMC Medical Genetics (2020)
6. Identification of Novel Variants in Iranian Consanguineous Pedigrees With Nonsyndromic Hearing Loss by Next-Generation Sequencing, Journal of Clinical Laboratory Analysis (2020)
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