Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients | ||||
| Middle East Journal of Medical Genetics | ||||
| Volume 11, Issue 1, January 2022, Page 29-37 PDF (1.23 MB) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/MXE.2023.283880 | ||||
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| Authors | ||||
| Hisham Megahed1; Engy A. Ashaat1; Samira Ismail1; Neveen A. Ashaat2; Vincent Cantagrel3; Mona O. El Ruby1 | ||||
| 1Department of Clinical genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt. | ||||
| 2Department of Molecular Genetics, Ain Shams University, Cairo, Egypt. | ||||
| 3Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France. | ||||
| Abstract | ||||
| MoCD is a rare autosomal recessive neuro-metabolic disorder which results from the absence of the three molybdenum requiring enzymes. It is caused by mutations in MoCS1, MoCS2, MoCS3 and GPHN genes. Therefore, there are four forms of this disorder namely type 1, 2, 3 and 4. All forms have the same clinical signs and symptoms, but differ by their genetic mutations. We present the clinical, neurological, neuro-radiological and molecular genetic analysis of two female Egyptian patients diagnosed with the rare form of MoCD type B disorder. They were subjected to detailed family history, clinical, neurological, and neuro-radiological investigations. Their diagnosis was MoCD type B with mild phenotype and confirmed by genetic mutation analysis through whole exome sequencing (WES). MoCD should be considered in all cases with neuro-developmental delay and neonatal convulsions. Therefore, MoCD analysis should be included in the neonatal screening to establish early diagnosis and potentially proper management. | ||||
| Keywords | ||||
| GPHN; MoCS1; MoCS2; MoCS3 genes; molybdenum cofactor; neurodevelopmental delay; prenatal genetic diagnosis; whole exome sequencing | ||||
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