Data di Pubblicazione:
2022
Citazione:
Smith-Magenis syndrome-Clinical review, biological background and related disorders / B. Rinaldi, R. Villa, A. Sironi, L. Garavelli, P. Finelli, M. Francesca Bedeschi. - In: GENES. - ISSN 2073-4425. - 13:2(2022 Feb 11), pp. 335.1-335.17. [10.3390/genes13020335]
Abstract:
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions (90%), encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by pathogenic variants in RAI1 itself (10%). RAI1 is a dosage-sensitive gene expressed in many tissues and acting as transcriptional regulator. The majority of individuals exhibit a mild-to-moderate range of intellectual disability. The behavioral phenotype includes significant sleep disturbance, stereotypes, maladaptive and self-injurious behaviors. In this review, we summarize current clinical knowledge and therapeutic approaches. We further discuss the common biological background shared with other conditions commonly retained in differential diagnosis.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Smith-Magenis; SMS; RAI1; 17p11.2 deletion syndrome; sleep disorders
Elenco autori:
B. Rinaldi, R. Villa, A. Sironi, L. Garavelli, P. Finelli, M. Francesca Bedeschi
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