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, Anne M. Bowcock

Research output: Contribution to journalArticlepeer-review

165 Scopus citations


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 (θ(max) = 0.05). There was evidence for genetic heterogeneity (α = 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 CGL 1 critical region harbors a plausible candidate gene encoding the retinoid X receptor α (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.

Original languageEnglish
Pages (from-to)3390-3394
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Issue number9
StatePublished - 1999
Externally publishedYes


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