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Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

Background: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features...

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Autores principales: Al-Hamed, Mohamed H., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ali, Wafa’a I., Sayer, John A., Imtiaz, Faiqa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565137/
https://www.ncbi.nlm.nih.gov/pubmed/32825426
http://dx.doi.org/10.3390/genes11090967
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author Al-Hamed, Mohamed H.
Alsahan, Nada
Tulbah, Maha
Kurdi, Wesam
Ali, Wafa’a I.
Sayer, John A.
Imtiaz, Faiqa
author_facet Al-Hamed, Mohamed H.
Alsahan, Nada
Tulbah, Maha
Kurdi, Wesam
Ali, Wafa’a I.
Sayer, John A.
Imtiaz, Faiqa
author_sort Al-Hamed, Mohamed H.
collection PubMed
description Background: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Biallelic pathogenic variants of TMEM94 are associated with IDDCDF. Methods and Results: In a prenatal setting, where fetal abnormalities were detected using antenatal sonography, we used trio-exome sequencing (trio-ES) in conjunction with chromosomal microarray analysis (CMA) to identify two novel homozygous loss of function variants in the TMEM94 gene (c.606dupG and c.2729-2A>G) in two unrelated Saudi Arabian families. Conclusions: This study provides confirmation that TMEM94 variants may cause IDDCDF. For the first time we describe the pathogenicity of TMEM94 defects detected during the prenatal period.
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spelling pubmed-75651372020-10-26 Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94 Al-Hamed, Mohamed H. Alsahan, Nada Tulbah, Maha Kurdi, Wesam Ali, Wafa’a I. Sayer, John A. Imtiaz, Faiqa Genes (Basel) Brief Report Background: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Biallelic pathogenic variants of TMEM94 are associated with IDDCDF. Methods and Results: In a prenatal setting, where fetal abnormalities were detected using antenatal sonography, we used trio-exome sequencing (trio-ES) in conjunction with chromosomal microarray analysis (CMA) to identify two novel homozygous loss of function variants in the TMEM94 gene (c.606dupG and c.2729-2A>G) in two unrelated Saudi Arabian families. Conclusions: This study provides confirmation that TMEM94 variants may cause IDDCDF. For the first time we describe the pathogenicity of TMEM94 defects detected during the prenatal period. MDPI 2020-08-20 /pmc/articles/PMC7565137/ /pubmed/32825426 http://dx.doi.org/10.3390/genes11090967 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
Al-Hamed, Mohamed H.
Alsahan, Nada
Tulbah, Maha
Kurdi, Wesam
Ali, Wafa’a I.
Sayer, John A.
Imtiaz, Faiqa
Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94
title Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94
title_full Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94
title_fullStr Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94
title_full_unstemmed Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94
title_short Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94
title_sort fetal anomalies associated with novel pathogenic variants in tmem94
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565137/
https://www.ncbi.nlm.nih.gov/pubmed/32825426
http://dx.doi.org/10.3390/genes11090967
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