Article
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.
Annals of clinical and translational neurology - 1 Jun 2020
Asiri Abdulaziz, Aloyouni Essra, Umair Muhammad, Alyafee Yusra, Al Tuwaijri Abeer, Alhamoudi Kheloud M, Almuzzaini Bader, Al Baz Abeer, Alwadaani Deemah, Nashabat Marwan, Alfadhel Majid
Abstract excerpt
BACKGROUND: RAP1GDS1 (RAP1, GTP-GDP dissociation stimulator 1), also known as SmgGDS, is a guanine nucleotide exchange factor (GEF) that regulates small GTPases, including, RHOA, RAC1, and KRAS. RAP1GDS1 was shown to be highly expressed in different tissue types including the brain. However, mutations in the RAP1GDS1 gene associated with human diseases have not previously been reported. METHODS: We report on four...
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