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Fetal anomalies associated with novel pathogenic variants in TMEM94

Lookup NU author(s): Mohamed Al-Hamed, Professor John SayerORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2020 by the authors. Licensee MDPI, Basel, Switzerland. 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.

Publication metadata

Author(s): Al-Hamed MH, Alsahan N, Tulbah M, Kurdi W, Ali W, Sayer JA, Imtiaz F

Publication type: Article

Publication status: Published

Journal: Genes

Year: 2020

Volume: 11

Issue: 9

Online publication date: 20/08/2020

Acceptance date: 13/08/2020

Date deposited: 19/10/2020

ISSN (electronic): 2073-4425

Publisher: MDPI AG


DOI: 10.3390/genes11090967

PubMed id: 32825426


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