Article
Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.
Journal of child neurology - 1 Jul 2017
Kharrat Marwa, Kamoun Yosra, Kamoun Fatma, Ellouze Emna, Maalej Marwa, Fendri-Kriaa Nourhene, Ammar-Keskes Leila, Belghith Neila, Gargouri Ali, Triki Chahnez, Fakhfakh Faiza
Abstract excerpt
Rett syndrome is an X-linked neurodevelopmental disorder, primarily caused by MECP2 mutations. In this study, clinical, molecular and bioinformatics analyses were performed in Rett patients to understand the relationship between MECP2 mutation type and the clinical severity. Two double MeCP2 mutations were detected: a novel one (p.G185 V in cis with p.R255X) in P1 and a known one (p.P179 S in cis with p.R255X) in...
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