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A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.

Abstract

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.

Authors+Show Affiliations

College of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar.Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.Department of Pediatric Ophthalmology, Sidra Medicine, Doha 26999, Qatar.College of Health and Life Sciences, Hamad Bin Khalifa University, Doha 34110, Qatar. Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar. Department of Genetic Medicine, Weill-Cornell Medical College, Doha 24144, Qatar.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

35732499

Citation

Kohailan, Muhammad, et al. "A De Novo Start-loss in EFTUD2 Associated With Mandibulofacial Dysostosis With Microcephaly: Case Report." Cold Spring Harbor Molecular Case Studies, vol. 8, no. 4, 2022.
Kohailan M, Al-Saei O, Padmajeya S, et al. A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. Cold Spring Harb Mol Case Stud. 2022;8(4).
Kohailan, M., Al-Saei, O., Padmajeya, S., Aamer, W., Elbashir, N., Al-Shabeeb Akil, A., Kamboh, A. R., & Fakhro, K. (2022). A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. Cold Spring Harbor Molecular Case Studies, 8(4). https://doi.org/10.1101/mcs.a006206
Kohailan M, et al. A De Novo Start-loss in EFTUD2 Associated With Mandibulofacial Dysostosis With Microcephaly: Case Report. Cold Spring Harb Mol Case Stud. 2022;8(4) PubMed PMID: 35732499.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. AU - Kohailan,Muhammad, AU - Al-Saei,Omayma, AU - Padmajeya,Sujitha, AU - Aamer,Waleed, AU - Elbashir,Najwa, AU - Al-Shabeeb Akil,Ammira, AU - Kamboh,Abdul-Rauf, AU - Fakhro,Khalid, Y1 - 2022/06/22/ PY - 2022/02/24/received PY - 2022/05/02/accepted PY - 2022/6/22/entrez PY - 2022/6/23/pubmed PY - 2022/6/25/medline KW - mandibulofacial dysostosis KW - microcephaly JF - Cold Spring Harbor molecular case studies JO - Cold Spring Harb Mol Case Stud VL - 8 IS - 4 N2 - 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. SN - 2373-2873 UR - https://www.unboundmedicine.com/medline/citation/35732499/A_de_novo_start_loss_in_EFTUD2_associated_with_mandibulofacial_dysostosis_with_microcephaly:_case_report_ DB - PRIME DP - Unbound Medicine ER -