| Autor: |
Kohailan, Muhammad, Al-Saei, Omayma, Padmajeya, Sujitha, Aamer, Waleed, Elbashir, Najwa, Al-Shabeeb Akil, Ammira, Kamboh, Abdul-Rauf, Fakhro, Khalid |
| Předmět: |
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| Zdroj: |
Cold Spring Harbor Molecular Case Studies; Jun2022, Vol. 8 Issue 4, p1-10, 10p |
| Abstrakt: |
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM. Using whole-genome sequencing, we identified a de novo start-codon loss (c.3G > T) in the EFTUD2. We examined EFTUD2 expression in the patient by RNA sequencing and observed a notable functional consequence of the variant on gene expression in the patient. We identified a novel variant for the development of MFDM in humans. To the best of our knowledge, this is the first report of a start-codon loss in EFTUD2 associated with MFDM. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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