Cargando…

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses the retinoic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Truong, Hoa T, Dudding, Tracy, Blanchard, Christopher L, Elsea, Sarah H
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2010
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964533/ https://www.ncbi.nlm.nih.gov/pubmed/20932317 http://dx.doi.org/10.1186/1471-2350-11-142

Ejemplares similares

RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
por: Falco, Mariateresa, et al.
Publicado: (2017)

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
por: Poisson, Alice, et al.
Publicado: (2015)

Acoustic Analysis of Phonation in Children With Smith–Magenis Syndrome
por: Hidalgo-De la Guía, Irene, et al.
Publicado: (2021)

Smith-magenis syndrome: A rare case report
por: Sinha, Rupam, et al.
Publicado: (2022)

Congenital Scoliosis in Smith–Magenis Syndrome: A Case Report and Review of the Literature
por: Li, Zheng, et al.
Publicado: (2015)

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review
por: Cipolla, Clelia, et al.
Publicado: (2023)

Cerebral Venous Thrombosis in a Patient With Smith-Magenis Syndrome
por: Zahoor, Hovra, et al.
Publicado: (2023)

Surgical treatment of scoliosis in Smith-Magenis syndrome: a case report
por: Tsirikos, Athanasios I, et al.
Publicado: (2010)

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome
por: Nag, Heidi Elisabeth, et al.
Publicado: (2018)

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders
por: Rinaldi, Berardo, et al.
Publicado: (2022)

Hidradenitis Suppurativa in a Patient with Smith-Magenis Syndrome: A Case Report
por: McKenzie, Shanice A, et al.
Publicado: (2019)

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
por: Boot, Erik, et al.
Publicado: (2021)

Tasimelteon safely and effectively improves sleep in Smith–Magenis syndrome: a double-blind randomized trial followed by an open-label extension
por: Polymeropoulos, Christos M., et al.
Publicado: (2021)

Parental experiences with behavioural problems in Smith–Magenis syndrome: The need for syndrome-specific competence
por: Nag, Heidi Elisabeth, et al.
Publicado: (2019)

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome
por: Carmona-Mora, Paulina, et al.
Publicado: (2012)

Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study
por: Agar, Georgie, et al.
Publicado: (2022)

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome
por: Carmona-Mora, Paulina, et al.
Publicado: (2010)

A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene
por: Wu, Xiaobin, et al.
Publicado: (2023)

Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder
por: Poisson, Alice, et al.
Publicado: (2019)

SUN-691 Type 2 Diabetes Management in the Context of Smith-Magenis Syndrome: Case Report
por: Mulvaney, Kylie Tamm, et al.
Publicado: (2020)

Management of Attention Deficits and Behavioral Dyscontrol With an Evening-Dosed Methylphenidate Formulation in Smith-Magenis Syndrome
por: Narlesky, Matthew R, et al.
Publicado: (2022)

Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith–Magenis syndrome
por: Chang, Ya-Ting, et al.
Publicado: (2022)

First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview
por: Nijim, Yousif, et al.
Publicado: (2016)

Adrenocorticotropic Hormone Therapy Improved Spasms and Sleep Disturbance in Smith–Magenis Syndrome: A Case Report
por: Momosaki, Ken, et al.
Publicado: (2020)

Age-related changes in behavioural and emotional problems in Smith–Magenis syndrome measured with the Developmental Behavior Checklist
por: Nag, Heidi Elisabeth, et al.
Publicado: (2020)

Mouse Models of Genomic Syndromes as Tools for Understanding the Basis of Complex Traits: An Example with the Smith-Magenis and the Potocki-Lupski Syndromes
por: Carmona-Mora, P, et al.
Publicado: (2009)

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models
por: Ricard, Guénola, et al.
Publicado: (2010)

First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview: Erratum
Publicado: (2017)

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials
por: Müller, A. R., et al.
Publicado: (2021)

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
por: Turco, Elisa Maria, et al.
Publicado: (2022)

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome
por: Lee, Cha Gon, et al.
Publicado: (2012)

Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith–Magenis syndrome
por: Huang, Wei-Hsiang, et al.
Publicado: (2018)

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses
por: Cai, Meiying, et al.
Publicado: (2021)

rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice
por: Chang, Hao-Cheng, et al.
Publicado: (2022)

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
por: Vetrini, Francesco, et al.
Publicado: (2019)

A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex
por: Trickett, J., et al.
Publicado: (2018)

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
por: Vetrini, Francesco, et al.
Publicado: (2019)

The developmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up study
por: Agar, Georgie, et al.
Publicado: (2023)

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation
por: Abad, Clemer, et al.
Publicado: (2018)

Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling
por: Javed, Sehrish, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_075dpfd7ru84ge7lcls2jp0v2p