Article
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
American journal of medical genetics. Part A - 1 Nov 2020
Al-Sulaiman Reem, Othman Amna, El-Akouri Karen, Fareed Shehab, AlMulla Hajer, Sukik Aseel, Al-Mureikhi Mariam, Shahbeck Noora, Ali Rehab, Al-Mesaifri Fatma, Musa Sara, Al-Mulla Mariam, Ibrahim Khalid, Mohamed Khalid, Al-Nesef Maryam Ali, Ehlayel Mohammad, Ben-Omran Tawfeg
Abstract excerpt
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed and analyzed the medical records of 12 individuals with GS2 from six families belonging to a highly consanguineous Qatari tribe and with a recurrent pathogenic variant...
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