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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity). ...CONCLUSIONS: TCF20 pathog …
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis …
Sleep disturbances and behavior in Smith-Magenis syndrome.
Garayzábal E, Hidalgo I, Miranda de Souza ALD, da Silva NC, Giacheti CM, Pinato L. Garayzábal E, et al. Res Dev Disabil. 2022 Sep;128:104286. doi: 10.1016/j.ridd.2022.104286. Epub 2022 Jun 29. Res Dev Disabil. 2022. PMID: 35779287
BACKGROUND: The Smith-Magenis syndrome (SMS) shows a collection of neurodevelopmental problems including mild to moderate intellectual disability, change-related anxiety, impulsivity, speech delay, Attention-Deficit/Hyperactivity Disorder (ADH) and sleep dist …
BACKGROUND: The Smith-Magenis syndrome (SMS) shows a collection of neurodevelopmental problems including mild to modera …
Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.
Linders CC, van Eeghen AM, Zinkstok JR, van den Boogaard MJ, Boot E. Linders CC, et al. Genes (Basel). 2023 Jul 25;14(8):1514. doi: 10.3390/genes14081514. Genes (Basel). 2023. PMID: 37628566 Free PMC article. Review.
AIM: Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the RAI1 gene. ...Median total CBCL 6-18 scores (73.5 vs. 66.0, p = 0.02) and scores on the sub-scales somatic …
AIM: Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathoge …
Ophthalmic manifestations of Smith-Magenis syndrome.
Chen RM, Lupski JR, Greenberg F, Lewis RA. Chen RM, et al. Ophthalmology. 1996 Jul;103(7):1084-91. doi: 10.1016/s0161-6420(96)30563-0. Ophthalmology. 1996. PMID: 8684798 Review.
PURPOSE: The Smith-Magenis syndrome (SMS) is a multiple-anomaly, mental retardation syndrome associated with deletions of a contiguous region of chromosome 17p11.2. ...Bilateral microphthalmos with uveal and retinal coloboma was observed in one individ …
PURPOSE: The Smith-Magenis syndrome (SMS) is a multiple-anomaly, mental retardation syndrome associated with deletions …
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
Gropman AL, Duncan WC, Smith AC. Gropman AL, et al. Pediatr Neurol. 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. Pediatr Neurol. 2006. PMID: 16647992 Review.
Many of the features of Smith-Magenis syndrome are subtle in infancy and early childhood, and become more recognizable with advancing age. ...Detailed review of the circadian rhythm disturbance unique to Smith-Magenis syndrome is presente …
Many of the features of Smith-Magenis syndrome are subtle in infancy and early childhood, and become more recognizable …
Auditory Phenotype of Smith-Magenis Syndrome.
Brendal MA, King KA, Zalewski CK, Finucane BM, Introne W, Brewer CC, Smith ACM. Brendal MA, et al. J Speech Lang Hear Res. 2017 Apr 14;60(4):1076-1087. doi: 10.1044/2016_JSLHR-H-16-0024. J Speech Lang Hear Res. 2017. PMID: 28384694 Free PMC article.
PURPOSE: The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome (SMS), a rare disorder including physical anomalies, cognitive deficits, sleep disturbances, and a distinct behavioral phenotype. ...When h …
PURPOSE: The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome …
The nature of social preference and interactions in Smith-Magenis syndrome.
Wilde L, Silva D, Oliver C. Wilde L, et al. Res Dev Disabil. 2013 Dec;34(12):4355-65. doi: 10.1016/j.ridd.2013.09.014. Epub 2013 Oct 9. Res Dev Disabil. 2013. PMID: 24120292
This natural observation study was designed to evaluate hypothesized elevated 'attention-seeking' and preference for adult attention in Smith-Magenis syndrome. Ten children with Smith-Magenis syndrome were observed across on …
This natural observation study was designed to evaluate hypothesized elevated 'attention-seeking' and preference for adult attention …
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).
Smith AC, Dykens E, Greenberg F. Smith AC, et al. Am J Med Genet. 1998 Mar 28;81(2):179-85. doi: 10.1002/(sici)1096-8628(19980328)81:2<179::aid-ajmg10>3.0.co;2-e. Am J Med Genet. 1998. PMID: 9613859 Review.
Smith-Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. ...This report reviews the current state of knowledge about SMS …
Smith-Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental ret …
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
Acquaviva F, Sana ME, Della Monica M, Pinelli M, Postorivo D, Fontana P, Falco MT, Nardone AM, Lonardo F, Iascone M, Scarano G. Acquaviva F, et al. Am J Med Genet A. 2017 Jan;173(1):231-238. doi: 10.1002/ajmg.a.37989. Epub 2016 Sep 28. Am J Med Genet A. 2017. PMID: 27683195 Review.
Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene-RAI1-or mutations in RAI1 itself. ...In both, CGH-array analysis detected a 15q13.3 int …
Smith-Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.2 deletions encompassing multip …
Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.
Nag HE, Nordgren A, Anderlid BM, Nærland T. Nag HE, et al. Mol Autism. 2018 Jan 8;9:1. doi: 10.1186/s13229-017-0184-2. eCollection 2018. Mol Autism. 2018. PMID: 29321841 Free PMC article.
The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general populatio …
The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD i …
110 results