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
Abstract 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...
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| Format: | Article |
| Language: | English |
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Wiley
2023-05-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.2168 |
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| author | Fereshteh Jamshidi Ebrahim Shokouhian Marzieh Mohseni Kimia Kahrizi Hossein Najmabadi Mojgan Babanejad |
| author_facet | Fereshteh Jamshidi Ebrahim Shokouhian Marzieh Mohseni Kimia Kahrizi Hossein Najmabadi Mojgan Babanejad |
| author_sort | Fereshteh Jamshidi |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-09T13:06:42Z |
| format | Article |
| id | doaj.art-39d97996c2e04ea79d5a364f6c386c99 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-09T13:06:42Z |
| publishDate | 2023-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-39d97996c2e04ea79d5a364f6c386c992023-05-12T14:52:44ZengWileyMolecular Genetics & Genomic Medicine2324-92692023-05-01115n/an/a10.1002/mgg3.2168Identification 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 reviewFereshteh Jamshidi0Ebrahim Shokouhian1Marzieh Mohseni2Kimia Kahrizi3Hossein Najmabadi4Mojgan Babanejad5Genetics Research Center University of Social Welfare and Rehabilitation Sciences Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran IranGenetics Research Center University of Social Welfare and Rehabilitation Sciences Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran IranGenetics Research Center University of Social Welfare and Rehabilitation Sciences Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran IranGenetics Research Center University of Social Welfare and Rehabilitation Sciences Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran IranGenetics Research Center University of Social Welfare and Rehabilitation Sciences Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran IranGenetics Research Center University of Social Welfare and Rehabilitation Sciences Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran IranAbstract 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.https://doi.org/10.1002/mgg3.2168FGF3IranLAMM syndromewhole‐exome sequencing |
| spellingShingle | Fereshteh Jamshidi Ebrahim Shokouhian Marzieh Mohseni Kimia Kahrizi Hossein Najmabadi Mojgan Babanejad 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 Molecular Genetics & Genomic Medicine FGF3 Iran LAMM syndrome whole‐exome sequencing |
| 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 | FGF3 Iran LAMM syndrome whole‐exome sequencing |
| url | https://doi.org/10.1002/mgg3.2168 |
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