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 journalArticle

144 Citations (Scopus)

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 (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 (US)
Pages (from-to)3390-3394
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume84
Issue number9
StatePublished - 1999

Fingerprint

Congenital Generalized Lipodystrophy
Lod Score
Human Chromosomes
Pedigree
Chromosomes
Adipocytes
Insulin Resistance
Adipose Tissue
Genes
Acanthosis Nigricans
Insulin
Tissue
Genetic Databases
Retinoid X Receptors
Gene encoding
Genetic Heterogeneity
Hypertriglyceridemia
Medical problems
Ports and harbors
Microsatellite Repeats

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Garg, A., Wilson, R., Barnes, R., Arioglu, E., Zaidi, Z., Gurakan, F., ... Bowcock, A. M. (1999). A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. Journal of Clinical Endocrinology and Metabolism, 84(9), 3390-3394.

A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. / Garg, Abhimanyu; Wilson, Ross; Barnes, Robert; Arioglu, Elif; Zaidi, Zohra; Gurakan, Figen; Kocak, Nurten; O'Rahilly, Stephen; Taylor, Simeon I.; Patel, Shailendra B.; Bowcock, Anne M.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 84, No. 9, 1999, p. 3390-3394.

Research output: Contribution to journalArticle

Garg, A, Wilson, R, Barnes, R, Arioglu, E, Zaidi, Z, Gurakan, F, Kocak, N, O'Rahilly, S, Taylor, SI, Patel, SB & Bowcock, AM 1999, 'A gene for congenital generalized lipodystrophy maps to human chromosome 9q34', Journal of Clinical Endocrinology and Metabolism, vol. 84, no. 9, pp. 3390-3394.
Garg, Abhimanyu ; Wilson, Ross ; Barnes, Robert ; Arioglu, Elif ; Zaidi, Zohra ; Gurakan, Figen ; Kocak, Nurten ; O'Rahilly, Stephen ; Taylor, Simeon I. ; Patel, Shailendra B. ; Bowcock, Anne M. / A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. In: Journal of Clinical Endocrinology and Metabolism. 1999 ; Vol. 84, No. 9. pp. 3390-3394.
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