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Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance.

作者信息

Si Nuo, Zhan Guoqin, Meng Xiaolu, Zhang Zeya, Huang Xin, Pan Bo

机构信息

Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100043, China.

出版信息

Front Med. 2023 Oct;17(5):1006-1009. doi: 10.1007/s11684-023-1000-3. Epub 2023 Jul 29.

DOI:10.1007/s11684-023-1000-3
PMID:37507637
Abstract
摘要

相似文献

[1]
Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance.

Front Med. 2023-10

[2]
Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.

Cleft Palate Craniofac J. 2019-5

[3]
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.

Clin Dysmorphol. 2020-10

[4]
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Hum Mutat. 2016-2

[5]
Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.

PLoS One. 2019-7-5

[6]
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.

Hum Genet. 2021-6

[7]
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

Hum Mol Genet. 2019-11-15

[8]
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

Am J Med Genet A. 2015-4

[9]
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.

Cleft Palate Craniofac J. 2015-3

[10]
EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.

Hum Genomics. 2019-12-5

引用本文的文献

[1]
Ocular Manifestations and Pathological Features in Goldenhar Syndrome: A 10-Year Retrospective Study.

Ophthalmol Ther. 2025-4

[2]
Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Cleft Palate Craniofac J. 2025-1-17

[3]
Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.

medRxiv. 2024-7-15

本文引用的文献

[1]
Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Nat Commun. 2021-8-3

[2]
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Front Genet. 2021-1-15

[3]
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.

Hum Genet. 2021-6

[4]
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.

Hum Mutat. 2020-8

[5]
Mutations in , encoding the myelin transcription factor 1, are a rare cause of OAVS.

J Med Genet. 2016-11

[6]
PRPH2/RDS and ROM-1: Historical context, current views and future considerations.

Prog Retin Eye Res. 2016-5

[7]
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015-5

[8]
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.

J Med Genet. 2014-10

[9]
The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research.

Eur J Med Genet. 2014-8

[10]
Microtia: epidemiology and genetics.

Am J Med Genet A. 2011-11-21

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