MYT1 role in the microtia‐craniofacial microsomia spectrum
| Autor: | Harry Pachajoa, Paula Hurtado-Villa, Paola Ayala-Ramírez, Natalia Jimenez, Andrew E. Timms, Carrie L. Heike, Lina Maria Ibañez, Milagros M. Dueñas-Roque, Gloria Liliana Porras-Hurtado, Daniela V Luquetti, Jonas A Gustafson, Ignacio Zarante |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine lcsh:QH426-470 030105 genetics & heredity Biology hemifacial microsomia Genetic analysis Clinical Reports DNA sequencing 03 medical and health sciences symbols.namesake Goldenhar Syndrome Genotype-phenotype distinction medicine craniofacial microsomia Humans genetics oculo‐auriculo‐vertebral spectrum Child Molecular Biology Gene Genetics (clinical) Congenital Microtia Genetics Sanger sequencing Clinical Report Microtia Syndrome medicine.disease Hypoplasia DNA-Binding Proteins Hemifacial microsomia lcsh:Genetics 030104 developmental biology Mutation symbols Female microtia Transcription Factors |
| Zdroj: | Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020) Molecular Genetics & Genomic Medicine |
| ISSN: | 2324-9269 |
| Popis: | Background Craniofacial microsomia (CFM), also known as the oculo‐auriculo‐vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral oral clefts, epibulbar dermoids, cardiac, vertebral, and renal abnormalities. The etiology of CFM is largely unknown. The MYT1 gene has been reported as a candidate based in mutations found in three unrelated individuals. Additional patients with mutations in this gene are required to establish its causality. We present two individuals with CFM that have rare variants in MYT1 contributing to better understand the genotype and phenotype associated with mutations in this gene. Methods/Results We conducted genetic analysis using whole‐exome and ‐genome sequencing in 128 trios with CFM. Two novel MYT1 mutations were identified in two participants. Sanger sequencing was used to confirm these mutations. Conclusion We identified two additional individuals with CFM who carry rare variants in MYT1, further supporting the presumptive role of this gene in the CFM spectrum. We conducted genetic analysis using whole‐exome and ‐genome sequencing in 128 trios with CFM. Two novel MYT1 mutations were identified in two participants, further supporting the presumptive role of this gene in the CFM spectrum. |
| Databáze: | OpenAIRE |
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