Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Mohamed H Al-Hamed, Nada Alsahan, Maha Tulbah, Wesam Kurdi, Wafa'a Ali, John A Sayer, Faiqa Imtiaz

Genes 2020 Aug 20

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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. 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. 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.

Citation

Mohamed H Al-Hamed, Nada Alsahan, Maha Tulbah, Wesam Kurdi, Wafa'a Ali, John A Sayer, Faiqa Imtiaz. Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94. Genes. 2020 Aug 20;11(9)