Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures

2017 ◽  
Vol 173 (8) ◽  
pp. 2226-2230 ◽  
Author(s):  
Stacy Hewson ◽  
Klajdi Puka ◽  
Saadet Mercimek-Mahmutoglu
Keyword(s):  
Intellectual Disability ◽  
Pathogenic Variant ◽  
Childhood Onset ◽  
Variable Expressivity

scholarly journals Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

2020 ◽  
Author(s):  
Talal J. Qazi ◽  
Qiao Wu ◽  
Ailikemu Aierken ◽  
Daru Lu ◽  
Ihtisham Bukhari ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Mutational Analysis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Facial Dysmorphism ◽  
Pakistani Family ◽  
Spermine Synthase ◽  
Whole Exome

Abstract Background: Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS is also characterized by reduced bone density, osteoporosis and facial dysmorphism. SRS phenotypes evolve with age from childhood to adulthood. Methods: Whole exome sequencing was performed to know the causative gene/pathogenic variant. Later we confirmed the pathogenic variant through Sanger sequencing. Furthermore, we also performed the mutational analysis through HOPE SERVER and SWISS-MODEL. Also, radiographs were also obtained for affected individual to confirm the disease features. Results: In this article, we report the first Pakistani family consisting of three patients with SRS and a novel missense pathogenic variant in the SMS gene (c.905 C>T p.(Ser302Leu)). In addition to the typical phenotypes, one patient presented with early-onset seizures. Clinical features, genetic and in-silico analysis linked the affected patients of the family with Snyder-Robinson and suggest that this novel mutation affects the spermine synthase activity Conclusion: A novel missense variant in the SMS, c.905C >T p. (Ser302Leu), causing Snyder- Robinson Syndrome (SRS) is reported in three members of Pakistani Family.

scholarly journals Whole exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

2020 ◽  
Author(s):  
Talal J. Qazi ◽  
Qiao Wu ◽  
Ailikemu Aierken ◽  
Daru Lu ◽  
Ihtisham Bukhari ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Mutational Analysis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Facial Dysmorphism ◽  
Pakistani Family ◽  
Spermine Synthase ◽  
Whole Exome

Abstract Background: Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS is also characterized by reduced bone density, osteoporosis and facial dysmorphism. SRS phenotypes evolve with age from childhood to adulthood. Methods: Whole exome sequencing was performed to know the causative gene/pathogenic variant. Later we confirmed the pathogenic variant through Sanger sequencing. Furthermore, we also performed the mutational analysis through HOPE SERVER and SWISS-MODEL. Also, radiographs were also obtained for affected individual to confirm the disease features. Results: In this article, we report the first Pakistani family consisting of three patients with SRS and a novel missense pathogenic variant in the SMS gene (c.905 C>T p.(Ser302Leu)). In addition to the typical phenotypes, one patient presented with early-onset seizures. Clinical features, genetic and in-silico analysis linked the affected patients of the family with Snyder-Robinson and suggest that this novel mutation affects the spermine synthase activityConclusion: A novel missense variant in the SMS, c.905C >T p. (Ser302Leu), causing Snyder- Robinson Syndrome (SRS) is reported in three members of Pakistani Family.

Childhood-Onset Disorders

2017 ◽  
Author(s):  
Waqar Rizvi
Keyword(s):  
Intellectual Disability ◽  
Disruptive Behavior ◽  
Motor Skills ◽  
Behavior Disorders ◽  
Communication Disorders ◽  
Learning Disorders ◽  
Tic Disorders ◽  
Childhood And Adolescence ◽  
Childhood Onset ◽  
Motor Skills Disorders

This chapter provides a review of disorders first diagnosed in infancy, childhood, and adolescence including intellectual disability, learning disorders, motor skills disorders, communication disorders, attention deficit and disruptive behavior disorders, tic disorders, elimination disorders, kleptomania, and pyromania

scholarly journals A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

2019 ◽  
Vol 5 (6) ◽  
pp. a003988 ◽  
Author(s):  
Aritoshi Iida ◽  
Kyoko Takano ◽  
Eri Takeshita ◽  
Chihiro Abe-Hatano ◽  
Shinichi Hirabayashi ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Pathogenic Variant ◽  
Review Of The Literature ◽  
Japanese Family

scholarly journals Whole exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

2020 ◽  
Author(s):  
Talal J. Qazi ◽  
Qiao Wu ◽  
Ailikemu Aierken ◽  
Daru Lu ◽  
Ihtisham Bukhari ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Mutational Analysis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Facial Dysmorphism ◽  
Pakistani Family ◽  
Spermine Synthase ◽  
Whole Exome

Abstract Background: Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS is also characterized by reduced bone density, osteoporosis and facial dysmorphism. SRS phenotypes evolve with age from childhood to adulthood. Methods: Whole exome sequencing was performed to know the causative gene/pathogenic variant. Later we confirmed the pathogenic variant through Sanger sequencing. Furthermore, we also performed the mutational analysis through HOPE SERVER and SWISS-MODEL. Also, radiographs were also obtained for affected individual to confirm the disease features. Results: In this article, we report the first Pakistani family consisting of three patients with SRS and a novel missense pathogenic variant in the SMS gene (c.905 C>T p.(Ser302Leu)). In addition to the typical phenotypes, one patient presented with early-onset seizures. Clinical features, genetic and in-silico analysis linked the affected patients of the family with Snyder-Robinson and suggest that this novel mutation affects the spermine synthase activityConclusion: A novel missense variant in the SMS, c.905C >T p. (Ser302Leu), causing Snyder- Robinson Syndrome (SRS) is reported in three members of Pakistani Family.

Novel Therapeutics in Childhood Onset Psychiatric Disorders

2013 ◽  
pp. 1061-1064
Author(s):  
Dorothy E. Grice ◽  
Alexander Kolevzon ◽  
Walter E. Kaufmann ◽  
Joseph D. Buxbaum
Keyword(s):  
Autism Spectrum Disorder ◽  
Clinical Trials ◽  
Down Syndrome ◽  
Intellectual Disability ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Model Systems ◽  
Childhood Onset ◽  
Preclinical Evaluation ◽  
Novel Therapeutics

Neurodevelopmental disorders are frequently the result of genetic and genomic abnormalities associated with high risk for disease. Creating analogous mutations in cell and animal models permits the assessment of underlying neurobiological mechanisms, generates clues about useful therapeutic targets, and provides systems for preclinical evaluation of novel therapeutics. This chapter briefly summarizes several clinical trials in neurodevelopmental disorders, all based on neurobiological findings in model systems, including trials in Down syndrome (DS) and several monogenic forms of intellectual disability (ID) and/or autism spectrum disorder (ASD).

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

2021 ◽  
Vol 36 (4) ◽  
pp. 581-588
Author(s):  
Yoav Zehavi ◽  
Ann Saada ◽  
Haneen Jabaly-Habib ◽  
Moshe Dessau ◽  
Avraham Shaag ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Optic Atrophy ◽  
De Novo ◽  
Pathogenic Variant ◽  
Childhood Onset

scholarly journals Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta

2020 ◽  
Vol 8 (5) ◽  
Author(s):  
Katelynn M. Wilton ◽  
Lauren B. Gunderson ◽  
Linda Hasadsri ◽  
Christopher P. Wood ◽  
Lisa A. Schimmenti
Keyword(s):  
Intellectual Disability ◽  
Pathogenic Variant
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