Article
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Genes - 30 Dec 2021
Aldhalaan Hesham, AlBakheet Albandary, AlRuways Sarah, AlMutairi Nouf, AlNakiyah Maha, AlGhofaili Reema, Cardona-Londoño Kelly J, Alahmadi Khalid Omar, AlQudairy Hanan, AlRasheed Maha M, Colak Dilek, Arold Stefan T, Kaya Namik
Abstract excerpt
Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental 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...
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