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Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review

BACKGROUND: To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL) cases around the globe. Manifested as complete or partial labyrinthine aplasia (severe malformations of the inner ear structure), type I microti...

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Autores principales: Jamshidi, Fereshteh, Shokouhian, Ebrahim, Mohseni, Marzieh, Kahrizi, Kimia, Najmabadi, Hossein, Babanejad, Mojgan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178790/
https://www.ncbi.nlm.nih.gov/pubmed/36934406
http://dx.doi.org/10.1002/mgg3.2168
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author Jamshidi, Fereshteh
Shokouhian, Ebrahim
Mohseni, Marzieh
Kahrizi, Kimia
Najmabadi, Hossein
Babanejad, Mojgan
author_facet Jamshidi, Fereshteh
Shokouhian, Ebrahim
Mohseni, Marzieh
Kahrizi, Kimia
Najmabadi, Hossein
Babanejad, Mojgan
author_sort Jamshidi, Fereshteh
collection PubMed
description BACKGROUND: To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL) cases around the globe. Manifested as complete or partial labyrinthine aplasia (severe malformations of the inner ear structure), type I microtia (smaller outer ear with shortened auricles), and microdontia (small and widely spaced teeth), labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome (OMIM 610706) is an extremely rare autosomal recessive condition caused by bi‐allelic mutations in the FGF3 gene. METHODS: Using the whole‐exome sequencing (WES) data of the proband, we analyzed a consanguineous Iranian family with three affected members presenting with congenital bilateral HL, type I microtia, and microdontia. RESULTS: We discovered the homozygous deletion c.45delC in the first exon of the FGF3 gene, overlapping a 38.72 Mb homozygosity region in chromosome 11. Further investigations using Sanger sequencing revealed that this variant co‐segregated with the phenotype observed in the family. CONCLUSION: Here, we report the first identified case of LAMM syndrome in Iran, and by identifying a frameshift variant in the first exon of the FGF3 gene, our result will help better clarify the phenotype–genotype relation of LAMM syndrome.
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spelling pubmed-101787902023-05-13 Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review Jamshidi, Fereshteh Shokouhian, Ebrahim Mohseni, Marzieh Kahrizi, Kimia Najmabadi, Hossein Babanejad, Mojgan Mol Genet Genomic Med Review Article BACKGROUND: To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL) cases around the globe. Manifested as complete or partial labyrinthine aplasia (severe malformations of the inner ear structure), type I microtia (smaller outer ear with shortened auricles), and microdontia (small and widely spaced teeth), labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome (OMIM 610706) is an extremely rare autosomal recessive condition caused by bi‐allelic mutations in the FGF3 gene. METHODS: Using the whole‐exome sequencing (WES) data of the proband, we analyzed a consanguineous Iranian family with three affected members presenting with congenital bilateral HL, type I microtia, and microdontia. RESULTS: We discovered the homozygous deletion c.45delC in the first exon of the FGF3 gene, overlapping a 38.72 Mb homozygosity region in chromosome 11. Further investigations using Sanger sequencing revealed that this variant co‐segregated with the phenotype observed in the family. CONCLUSION: Here, we report the first identified case of LAMM syndrome in Iran, and by identifying a frameshift variant in the first exon of the FGF3 gene, our result will help better clarify the phenotype–genotype relation of LAMM syndrome. John Wiley and Sons Inc. 2023-03-19 /pmc/articles/PMC10178790/ /pubmed/36934406 http://dx.doi.org/10.1002/mgg3.2168 Text en © 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Jamshidi, Fereshteh
Shokouhian, Ebrahim
Mohseni, Marzieh
Kahrizi, Kimia
Najmabadi, Hossein
Babanejad, Mojgan
Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review
title Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review
title_full Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review
title_fullStr Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review
title_full_unstemmed Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review
title_short Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review
title_sort identification of a homozygous frameshift mutation in the fgf3 gene in a consanguineous iranian family: first report of labyrinthine aplasia, microtia, and microdontia syndrome in iran and literature review
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178790/
https://www.ncbi.nlm.nih.gov/pubmed/36934406
http://dx.doi.org/10.1002/mgg3.2168
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