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Vol. 64 No. 9: Issue 9

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The first successful application of preimplantation genetic diagnosis for hearing loss in Iran

https://doi.org/10.14715/cmb/2018.64.9.11
Alireza Karimi Yazdi
Otorhinolaryngology Research Center, Tehran University of Medical Sciences, Tehran, Iran – Valiasr Hospital, Imam Khomeini Hospital Complex.
Elham Davoudi-Dehaghani
Kawsar Human Genetics Research Center, Tehran, Iran
Mahtab Rabbani Anari
Otorhinolaryngology Research Center, Tehran University of Medical Sciences, Tehran, Iran – Valiasr Hospital, Imam Khomeini Hospital Complex
Paanti Fouladi
Kawsar Human Genetics Research Center, Tehran, Iran
Elmira Ebrahimi
Cancer Biology Research Center, Cancer Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
Solmaz Sabeghi
Kawsar Human Genetics Research Center, Tehran, Iran
Ali Eftekharian
Otolaryngology Department, Loghman Hospital, Beheshti University of Medical Sciences, Tehran, Iran
Kiyana Sadat Fatemi
Kawsar Human Genetics Research Center, Tehran, Iran
Hamed Emami
Otorhinolaryngology Research Center, Tehran University of Medical Sciences, Tehran, Iran – Valiasr Hospital, Imam Khomeini Hospital Complex
Zohreh Sharifi
Kawsar Human Genetics Research Center, Tehran, Iran
Fatemeh Ramezanzadeh
Vali-e-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran
Ardavan Tajdini
Otolaryngology Department, Amiralam Hospital, Tehran University of Medical Sciences, Tehran, Iran
Sirous Zeinali
Kawsar Human Genetics Research Center, Tehran, Iran
Saeid Amanpour
Vali-e-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran

Corresponding Author(s) : Saeid Amanpour

saeidamanpour@yahoo.com

Cellular and Molecular Biology, Vol. 64 No. 9: Issue 9

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.

Keywords

Sensorineural deafness Connexin-26 Assisted reproductive technology Preimplantation genetic diagnosis.
Karimi Yazdi, A., Davoudi-Dehaghani, E., Rabbani Anari, M., Fouladi, P., Ebrahimi, E., Sabeghi, S., Eftekharian, A., Fatemi, K. S., Emami, H., Sharifi, Z., Ramezanzadeh, F., Tajdini, A., Zeinali, S., & Amanpour, S. (2018). The first successful application of preimplantation genetic diagnosis for hearing loss in Iran. Cellular and Molecular Biology, 64(9). https://doi.org/10.14715/cmb/2018.64.9.11
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