Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

Smith, AC ; Gropman, AL ; et al.

In: Genetics in medicine : official journal of the American College of Medical Genetics, Jg. 4 (2002-05-01), Heft 3, S. 118-25

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Purpose: Smith-Magenis syndrome (SMS), a probable contiguous gene syndrome due to an interstitial deletion of chromosome 17 band p11.2, is associated with a distinct and complex phenotype, including physical, developmental, and neurobehavioral features. The majority of SMS patients are deleted for a common approximately 4 Mb interval that includes the gene SREBF1, a transmembrane transcription factor that regulates the low density lipoprotein (LDL) receptor and plays a crucial role in cholesterol homeostasis. A systematic study of fasting lipid profiles of patients with SMS was conducted to determine the frequency of cholesterol abnormalities.

Methods: Fasting lipid profiles were examined in 49 children (27F/22M) between the ages of 0.6 years to 17.6 years (mean, 6.9 years) with a cytogenetically confirmed diagnosis of SMS. Observed values for serum total cholesterol (TC), triglycerides (TG), LDL cholesterol, and high density lipoprotein cholesterol were compared with published norms. The body mass index (BMI) was used as a measure of nutritional status.

Results: Mean TC was significantly higher than published NHANES III pediatric norms (P < 0.0008). Overall 28 of 49 (57%) SMS subjects had lipid values greater than the 95th percentile for age and gender for at least one or more of the following: TC, TG, and/or LDL. Only 16 SMS subjects (32%) were within normal limits for all three of these variables. BMI values showed minimal positive correlation to SMS lipid values; however, no consistent effect was found. Thus BMI values alone do not explain the marked trend in increased TC, TG, and/or LDL observed in the SMS group. Based on the American Academy of Pediatrics recommended lipid levels for children and adolescents, only one third of SMS subjects fall within normal range for TC and LDL; an additional one third each measure "borderline" or "high" for these values.

Conclusion: Hypercholesterolemia is common in SMS and may serve as a useful early clinical biochemical marker of the syndrome.

Titel:	Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).
Autor/in / Beteiligte Person:	Smith, AC ; Gropman, AL ; Bailey-Wilson, JE ; Goker-Alpan, O ; Elsea, SH ; Blancato, J ; Lupski, JR ; Potocki, L
Link:	Full Text Finder (Volltext)
Zeitschrift:	Genetics in medicine : official journal of the American College of Medical Genetics, Jg. 4 (2002-05-01), Heft 3, S. 118-25
Veröffentlichung:	2022- : [New York] : Elsevier ; <i>Original Publication</i>: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-, 2002
Medientyp:	academicJournal
ISSN:	1098-3600 (print)
DOI:	10.1097/00125817-200205000-00004
Schlagwort:	Adolescent Body Mass Index CCAAT-Enhancer-Binding Proteins genetics Child Child, Preschool Cholesterol blood Cholesterol, HDL blood Cholesterol, LDL blood DNA-Binding Proteins genetics Female Humans Infant Male Sterol Regulatory Element Binding Protein 1 Syndrome Triglycerides blood Abnormalities, Multiple genetics Chromosomes, Human, Pair 17 Gene Deletion Hypercholesterolemia genetics Transcription Factors
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S. Language: English [Genet Med] 2002 May-Jun; Vol. 4 (3), pp. 118-25. MeSH Terms: Chromosomes, Human, Pair 17* ; Gene Deletion* ; Transcription Factors* ; Abnormalities, Multiple / genetics ; Hypercholesterolemia / genetics ; Adolescent ; Body Mass Index ; CCAAT-Enhancer-Binding Proteins / genetics ; Child ; Child, Preschool ; Cholesterol / blood ; Cholesterol, HDL / blood ; Cholesterol, LDL / blood ; DNA-Binding Proteins / genetics ; Female ; Humans ; Infant ; Male ; Sterol Regulatory Element Binding Protein 1 ; Syndrome ; Triglycerides / blood Grant Information: HD 08010 United States HD NICHD NIH HHS; HD 38534 United States HD NICHD NIH HHS; HD2406402 United States HD NICHD NIH HHS; HD94021 United States HD NICHD NIH HHS; K08HD01149 United States HD NICHD NIH HHS; M01RR00188 United States RR NCRR NIH HHS; P01CA75719 United States CA NCI NIH HHS Substance Nomenclature: 0 (CCAAT-Enhancer-Binding Proteins) ; 0 (Cholesterol, HDL) ; 0 (Cholesterol, LDL) ; 0 (DNA-Binding Proteins) ; 0 (SREBF1 protein, human) ; 0 (Sterol Regulatory Element Binding Protein 1) ; 0 (Transcription Factors) ; 0 (Triglycerides) ; 97C5T2UQ7J (Cholesterol) Entry Date(s): Date Created: 20020816 Date Completed: 20030805 Latest Revision: 20220210 Update Code: 20240513

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