A novel missense mutation in the UBE2A gene Causes Intellectual Disability in the Large X‐Linked Family

2020 ◽  
Author(s):  
Saide Betül Arslan Satılmış ◽  
Emin Emre Kurt ◽  
Ebru Perim Akçay ◽  
Ali Sazci ◽  
Ahmet Cevdet Ceylan
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation

scholarly journals Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome

2021 ◽  
Vol 9 (8) ◽  
Author(s):  
Maria Arvio ◽  
Maria Haanpää ◽  
Pia Pohjola ◽  
Jaana Lähdetie
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Mecp2 Gene ◽  
Middle Aged

scholarly journals An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction

2018 ◽  
Vol 11 ◽  
Author(s):  
Chen Tian ◽  
Yuni Kay ◽  
Anastasiia Sadybekov ◽  
Sadhna Rao ◽  
Vsevolod Katritch ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation

scholarly journals Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

2016 ◽  
Vol 8 ◽  
Author(s):  
Philip Long ◽  
Melanie M. May ◽  
Victoria M. James ◽  
Simone Grannò ◽  
John P. Johnson ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation

scholarly journals A missense mutation in the catalytic domain of O ‐GlcNAc transferase links perturbations in protein O ‐GlcNAcylation to X‐linked intellectual disability

FEBS Letters ◽  
2019 ◽  
Vol 594 (4) ◽  
pp. 717-727 ◽  
Author(s):  
Veronica M. Pravata ◽  
Mehmet Gundogdu ◽  
Sergio G. Bartual ◽  
Andrew T. Ferenbach ◽  
Marios Stavridis ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Catalytic Domain ◽  
Glcnac Transferase

scholarly journals In Silico Investigation of a Missense Mutation in CLIC2 Associated with Intellectual Disability

2011 ◽  
Vol 100 (3) ◽  
pp. 611a
Author(s):  
Shawn Witham ◽  
Kyoko Takano ◽  
Charles Schwartz ◽  
Emil Alexov
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
In Silico

scholarly journals Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

2021 ◽  
pp. 1-9
Author(s):  
André Mégarbané ◽  
Sayeeda Hana ◽  
Hala Mégarbané ◽  
Christel Castro ◽  
Sylvain Baulande ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
Bone Fragility ◽  
Dentinogenesis Imperfecta ◽  
Review Of The Literature ◽  
Obligate Carrier ◽  
Whole Exome ◽  
Sequencing Studies

We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G&#x3e;A (p.Arg168His) missense mutation in <i>IRX5</i> in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.

Homozygous missense mutation inMED25segregates with syndromic intellectual disability in a large consanguineous family

2014 ◽  
Vol 52 (2) ◽  
pp. 123-127 ◽  
Author(s):  
Thalita Figueiredo ◽  
Uirá Souto Melo ◽  
André Luiz Santos Pessoa ◽  
Paulo Ribeiro Nobrega ◽  
João Paulo Kitajima ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Mutation ◽  
Consanguineous Family ◽  
Homozygous Missense Mutation
Sign in / Sign up

Export Citation Format

Share Document