Abstract:
BACKGROUND:Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene. CASE PRESENTATION:Here, we investigate the case of a young girl with symptoms of MFDM and a normal karyotype. Whole-exome sequencing of the family was performed to identify genetic alterations responsible for this phenotype. We identified a de novo synonymous variant in the EFTUD2 gene. We demonstrated that this synonymous variant disrupts the donor splice-site in intron 9 resulting in the skipping of exon 9 and a frameshift that leads to a premature stop codon. CONCLUSIONS:We present the first case of MFDM caused by a synonymous variant disrupting the donor splice site, leading to exon skipping.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Jacob A,Pasquier J,Carapito R,Auradé F,Molitor A,Froguel P,Fakhro K,Halabi N,Viot G,Bahram S,Rafii Adoi
10.1186/s12881-020-01121-ysubject
Has Abstractpub_date
2020-09-17 00:00:00pages
182issue
1issn
1471-2350pii
10.1186/s12881-020-01121-yjournal_volume
21pub_type
杂志文章abstract:BACKGROUND:This study was aimed to investigate the regulatory role of microRNA-210 (miRNA-210) on the progression of liver cancer and Hepatitis B virus (HBV)-associated liver cancer. METHODS:The expression of miRNA-210 was detected in liver tissues of HBV-associated cirrhosis and liver cancer, and in HepG2 and HepG2.2...
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pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2019-11-14 00:00:00
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更新日期:2017-04-20 00:00:00
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更新日期:2019-02-08 00:00:00
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