MYT1 role in the microtia‐craniofacial microsomia spectrum

Molecular Genetics & Genomic Medicine

Gloria L. Porras‐Hurtado¹  Milagros M. Duenas‐Roque²  Ignacio Zarante³  Paola Ayala‐Ramirez³  Natalia Jimenez⁴  Lina M. Ibanez⁴  Paula Hurtado‐Villa⁴  Jonas Gustafson⁵  Andrew E. Timms⁵  Harry Pachajoa⁶  Carrie L. Heike⁷  Daniela V. Luquetti⁷ 

[1] Clinica Comfamiliar Risaralda Pereira Colombia;Hospital Edgardo Rebagliati Martins Lima Peru;Human Genomics Institute Pontificia Universidad Javeriana Bogotá Colombia;Pontificia Universidad Javeriana Cali Colombia;Seattle Children's Research Institute Seattle WA USA;Universidad Icesi Cali Colombia;University of Washington School of Medicine Seattle WA USA;

关键词: craniofacial microsomia;    genetics;    hemifacial microsomia;    microtia;    oculo‐auriculo‐vertebral spectrum;   

DOI  :  10.1002/mgg3.1401

来源: DOAJ

【 摘 要 】

Abstract 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.

【 授权许可】

Unknown