ReviewJournal of pediatric genetics2015
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.
Review in Journal of pediatric genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.Expert reviews in molecular medicine · 2025Pooled it
- MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Pooled it
- 5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Genetic Mechanisms of Experience-Dependent Neuronal Plasticity.Annual review of genetics · 2025Review
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- A network frame offers a promising transdisciplinary tool for understanding complex health and health care system problems like suicide.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Article
- Physiotherapy intervention in Smith-Magenis syndrome: A case report based on exercise therapy for postural control and balance.Clinical case reports · 2024Article
- Diagnosis and clinical presentation of two individuals with a rareBMJ case reports · 2022Article
- A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.European journal of human genetics : EJHG · 2022Article
- Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia.Frontiers in genetics · 2022Article
- Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study.Frontiers in pediatrics · 2022Article
- Age-related changes in behavioural and emotional problems in Smith-Magenis syndrome measured with the Developmental Behavior Checklist.Journal of intellectual disabilities : JOID · 2021Article
- An approach to gene-based testing accounting for dependence of tests among nearby genes.Briefings in bioinformatics · 2021Article
- Case report: Spinal anesthesia for cesarean section in a parturient with Potocki-Lupski syndrome.BMC anesthesiology · 2021Article
- Anesthesia in a Patient with Potocki-Lupski Syndrome.Case reports in anesthesiology · 2021Article
- Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses.Frontiers in genetics · 2021Article
- RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.American journal of human genetics · 2020Article
- Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.American journal of medical genetics. Part A · 2020Article
- Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta).PLoS genetics · 2020Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are reciprocal contiguous gene syndromes within the well-characterized 17p11.2 region. Approximately 3.6 Mb microduplication of 17p11.2, known as PTLS, represents the mechanistically predicted homologous recombination reciprocal of the SMS microdeletion, both resulting in multiple congenital anomalies. Mouse model studies have revealed that the retinoic acid-inducible 1 gene (RAI1) within the SMS and PTLS critical genomic interval is the dosage-sensitive gene responsible for the major phenotypic features in these disorders. Even though PTLS and SMS share the same genomic region, clinical manifestations and behavioral issues are distinct and in fact some mirror traits may be on opposite ends of a given phenotypic spectrum. We describe the neurobehavioral phenotypes of SMS and PTLS patients during different life phases as well as clinical guidelines for diagnosis and a multidisciplinary approach once diagnosis is confirmed by array comparative genomic hybridization or RAI1 gene sequencing. The main goal is to increase awareness of these rare disorders because an earlier diagnosis will lead to more timely developmental intervention and medical management which will improve clinical outcome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.