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*Gene*GEO Profiles
*HomoloGene*Nucleotide
*OMIM*Protein
*UniGene*UniSTS
The Journal of Clinical Endocrinology & Metabolism Vol. 84, No. 9 3390-3394
Copyright © 1999 by The Endocrine Society

Rapid Communications

A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9q34

Abhimanyu Garg, Ross Wilson, Robert Barnes, Elif Arioglu, Zohra Zaidi, Figen Gurakan, Nurten Kocak, Stephen O’Rahilly, Simeon I. Taylor, Shailendra B. Patel and Anne M. Bowcock

Department of Internal Medicine (A.G., R.W., R.B., S.B.P., A.M.B.) and Center for Human Nutrition (A.G., S.B.P.), University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75235; Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases (E.A., S.I.T.), Bethesda, Maryland 20892; Department of Dermatology (Z.Z.), Zinnah Postgraduate Medical Center, Karachi, Pakistan; The Gastroenterology Unit, Department of Pediatrics (F.G., N.K.), Hacettepe University \E Faculty of Medicine, Ankara 06100, Turkey; Departments of Medicine and Clinical Biochemistry (S.O.), University of Cambridge, Cambridge CB2 2QR, United Kingdom

Abstract

Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM #269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have marked insulin resistance, hypertriglyceridemia and acanthosis nigricans, and develop diabetes mellitus during teenage years. The genetic defect for CGL is unknown. A semi-automated genome-wide scan with a set of highly polymorphic short tandem repeats (STR) was carried out in 17 well-characterized pedigrees and identified a locus for CGL to chromosome 9q34. The maximum two-point lod score obtained was 3.6 at D9S1818 ({theta}max = 0.05). There was evidence for genetic heterogeneity ({alpha} = 0.73) and 2 of the pedigrees were unlinked. Multipoint linkage analysis excluding the 2 unlinked families yielded a peak lod score of 5.4 between loci D9S1818 and D9S1826. The CGL1 critical region harbors a plausible candidate gene encoding the retinoid X receptor {alpha} (RXRA) that plays a central role in adipocyte differentiation. Identification of the CGL gene(s) will contribute to our understanding of the adipocyte differentiation and elucidation of the mechanisms of insulin resistance in disorders of adipose tissue.




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