Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review

Children · 16 authors, 5 centres

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TL;DR

This retrospective, single-center observational study analyzed the metabolic profiles of 35 Italian patients (aged 2.9–32.4 years) with genetically confirmed Smith-Magenis syndrome.

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This retrospective, single-center observational study analyzed the metabolic profiles of 35 Italian patients (aged 2.9–32.4 years) with genetically confirmed Smith-Magenis syndrome. Researchers measured serum lipids, fasting glucose, glycated hemoglobin (HbA1c), and basal insulin. No patients with RAI1 variants had dyslipidemia, but they were more likely to have increased basal insulin. A strong negative correlation was found between BMI percentiles and HDL cholesterol. Limitations include the retrospective design, lack of a control group, and a relatively small sample size.

STUDY TYPE

cohort

SPECIALTY

endocrinology

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100% · A

ORIGINAL PAPER

PMC10527612

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review

Children

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ABSTRACT

Background : Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the RAI1 gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. Hypercholesterolemia has been described in SMS, and obesity is also commonly found. Aim : To describe and characterize the metabolic phenotype of a cohort of SMS patients with an age range of 2.9–32.4 years and to evaluate any correlations between their body mass index and serum lipids, glycated hemoglobin (HbA1c), and basal insulin levels. Results : Seven/thirty-five patients had high values of both total cholesterol and low-density lipoprotein cholesterol; 3/35 had high values of triglycerides; none of the patients with RAI1 variants presented dyslipidemia. No patients had abnormal fasting glucose levels. Three/thirty-five patients had HbA1c in the prediabetes range. Ten/twenty-two patients with 17p11.2 deletion and 2/3 with RAI1 variants had increased insulin basal levels. Three/twenty-three patients with the 17p11.2 deletion had prediabetes. Conclusion : Our investigation suggests that SMS ‘deleted’ patients may show a dyslipidemic pattern, while SMS ‘mutated’ patients are more likely to develop early-onset obesity along with hyperinsulinism.

CITATION EXPORT

Clelia Cipolla, Linda Sessa, Giulia Rotunno et al.. Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review. Children. (2023). https://doi.org/10.3390/children10091451

AUTHORS

16 · 5 CENTRES

Clelia Cipolla, Linda Sessa, Giulia Rotunno, Giorgio Sodero, Francesco Proli, Chiara Veredice, Valentina Giorgio, Chiara Leoni, Jessica Rosati, Domenico Limongelli, Eliza Kuczynska, Elisabetta Sforza, Valentina Trevisan, Donato Rigante, Giuseppe Zampino, Roberta Onesimo

1Pediatric Unit, Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, RM, Italy; [email protected] (C.C.); [email protected] (G.Z.); [email protected] (R.O.)
2Università Cattolica Sacro Cuore, 00168 Rome, RM, Italy
3Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, RM, Italy
4Center for Rare Diseases and Birth Defect, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, RM, Italy
5Unità di Riprogrammazione Cellulare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, FG, Italy

EDITOR / REVIEWER

Berna Seker Yilmaz