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

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 pat...

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Autores principales: Kohailan, Muhammad, Al-Saei, Omayma, Padmajeya, Sujitha, Aamer, Waleed, Elbashir, Najwa, Al-Shabeeb Akil, Ammira, Kamboh, Abdul-Rauf, Fakhro, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235844/
https://www.ncbi.nlm.nih.gov/pubmed/35732499
http://dx.doi.org/10.1101/mcs.a006206
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author Kohailan, Muhammad
Al-Saei, Omayma
Padmajeya, Sujitha
Aamer, Waleed
Elbashir, Najwa
Al-Shabeeb Akil, Ammira
Kamboh, Abdul-Rauf
Fakhro, Khalid
author_facet Kohailan, Muhammad
Al-Saei, Omayma
Padmajeya, Sujitha
Aamer, Waleed
Elbashir, Najwa
Al-Shabeeb Akil, Ammira
Kamboh, Abdul-Rauf
Fakhro, Khalid
author_sort Kohailan, Muhammad
collection PubMed
description 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.
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spelling pubmed-92358442022-07-08 A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report Kohailan, Muhammad Al-Saei, Omayma Padmajeya, Sujitha Aamer, Waleed Elbashir, Najwa Al-Shabeeb Akil, Ammira Kamboh, Abdul-Rauf Fakhro, Khalid Cold Spring Harb Mol Case Stud Research Report 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. Cold Spring Harbor Laboratory Press 2022-06 /pmc/articles/PMC9235844/ /pubmed/35732499 http://dx.doi.org/10.1101/mcs.a006206 Text en © 2022 Kohailan et al.; Published by Cold Spring Harbor Laboratory Press https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Research Report
Kohailan, Muhammad
Al-Saei, Omayma
Padmajeya, Sujitha
Aamer, Waleed
Elbashir, Najwa
Al-Shabeeb Akil, Ammira
Kamboh, Abdul-Rauf
Fakhro, Khalid
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
title A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
title_full A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
title_fullStr A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
title_full_unstemmed A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
title_short A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
title_sort de novo start-loss in eftud2 associated with mandibulofacial dysostosis with microcephaly: case report
topic Research Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235844/
https://www.ncbi.nlm.nih.gov/pubmed/35732499
http://dx.doi.org/10.1101/mcs.a006206
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