A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts
Cardona-Londoño, Kelly J.
Alahmadi, Khalid Omar
Alrasheed, Maha M.
Arold, Stefan T.
KAUST DepartmentDivision of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia
Computational Bioscience Research Center (CBRC)
Permanent link to this recordhttp://hdl.handle.net/10754/675014
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AbstractPathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neu-rodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Here, we identified a novel variant in GEMIN4 (NM_015721:exon2:c.440A>G:p.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification. We comprehen-sively investigated the patients’ clinical features, including brain imaging and electroencephalogram findings, and compared their phenotypic characteristics with those of previously reported cases. In silico prediction and structural modeling support that the p.His147Arg variant is pathogenic.
CitationAldhalaan, H., AlBakheet, A., AlRuways, S., AlMutairi, N., AlNakiyah, M., AlGhofaili, R., … Kaya, N. (2021). A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts. Genes, 13(1), 92. doi:10.3390/genes13010092
SponsorsThis research was funded by National Plan for Science, Technology, and Innovation program under King Abdulaziz City for Science and Technology (NSTIP/KACST), whom we wish to thank for their generous grant support to Namik Kaya, (Grant Number KACST#14-MED2007-20).
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