ArticleAmerican journal of human genetics1991
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Article in American journal of human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers.
What it found
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Who cites it
108 citing papers in PubMed, 348 citations in OpenAlex.
- Tasimelteon safely and effectively improves sleep in Smith-Magenis syndrome: a double-blind randomized trial followed by an open-label extension.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Potential Contributions of Sleep and Circadian Rhythms to Behavioral Difficulties in Children with Smith-Magenis Syndrome in Real Life: An Actigraphy-Based Study.Children (Basel, Switzerland) · 2026Article
- A Case of Smith-Magenis Syndrome Undergoing Palatoplasty.Journal of plastic and reconstructive surgery · 2026Article
- A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report.Children (Basel, Switzerland) · 2026Article
- Clinical, Sleep, and Chronobiological Characteristics of Children with Smith-Magenis Syndrome Under Treatment for Sleep Disorders.Children (Basel, Switzerland) · 2025Article
- Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome.Molecular cytogenetics · 2025Article
- RETRACTED: Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Deletion ofJournal of genetics · 2025Article
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in theMolecular syndromology · 2024Article
- Differentiating monogenic and syndromic obesities from polygenic obesity: Assessment, diagnosis, and management.Obesity pillars · 2024Review
- Case Report: A Case of a Patient with Smith-Magenis Syndrome and Early-Onset Parkinson's Disease.International journal of molecular sciences · 2024Article
- Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.Children (Basel, Switzerland) · 2023Article
- Review
- Polyembolokoilamania with obsessive compulsive and related disorders: A case series.Indian journal of psychiatry · 2023Article
- Complex genomic rearrangements: an underestimated cause of rare diseases.Trends in genetics : TIG · 2022Review
- 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
- Loss ofProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Smith-magenis syndrome: A rare case report.Journal of family medicine and primary care · 2022Article
- Review
48 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral neuropathy, since markers showing close linkage to one form of Charcot-Marie-Tooth disease (CMT1A) map to this chromosomal region. The common clinical findings were broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, and hoarse, deep voice. Fifty-five percent of the patients showed clinical signs (e.g., decreased or absent deep tendon reflexes, pes planus or pes cavus, decreased sensitivity to pain, and decreased leg muscle mass) suggestive of peripheral neuropathy. However, unlike patients with CMT1A, these patients demonstrated normal nerve conduction velocities. Self-destructive behaviors, primarily onychotillomania and polyembolokoilamania, were observed in 67% of the patients, and significant symptoms of sleep disturbance were observed in 62%. The absence of REM sleep was demonstrated by polysomnography in two patients. Southern analysis indicated that most patients were deleted for five 17p11.2 markers--FG1 (D17S446), 1516 (D17S258), pYNM67-R5 (D17S29), pA10-41 (D17S71), and pS6.1-HB2 (D17S445)--thus defining a region which appears to be critical to SMS. The deletion was determined to be of paternal origin in nine patients and of maternal origin in six patients. The apparent random parental origin of deletion documented in 15 patients suggests that genomic imprinting does not play a role in the expression of the SMS clinical phenotype. Our findings suggest that SMS is likely a contiguous-gene deletion syndrome which comprises characteristic clinical features, developmental delay, clinical signs of peripheral neuropathy, abnormal sleep function, and specific behavioral anomalies.
Indexed as
Identifiers
1746552PMC1686451W181881221What OpenQuestion holds
Registered trials
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.