Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs

• Published in: Journal of medical genetics Vol. 37; no. 7; pp. e8 - 8
• Main Authors: ZUMSTEG, URS, MULLER, PATRICK Y, MISEREZ, ANDRÉ R
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.07.2000; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adolescent; Apolipoproteins; Apolipoproteins E - genetics; Baldness; Cholesterol; Chromosomes; Chromosomes, Human, Pair 2 - genetics; Consanguinity; Diabetes; Diabetes Mellitus, Type 2 - blood; Diabetes Mellitus, Type 2 - genetics; Electronic Letters; Female; Genes; Genetic Heterogeneity; Growth hormones; Hearing Loss, Sensorineural - genetics; Humans; Hypercholesterolemia - genetics; Hypertriglyceridemia - genetics; Hypothyroidism; Insulin; Insulin resistance; Insulin-like growth factors; Laboratories; Lipoproteins; Localization; Lod Score; Male; Metabolism; Mutation; Obesity; Obesity - genetics; Pedigree; Phenotype; Retinitis Pigmentosa - genetics; Scoliosis; Syndrome
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.37.7.e8

E ditor -Alström syndrome is a rare, autosomal recessive disorder, which was first described by Alströmet al 1 in 1959 as a combination of atypical retinal degeneration, obesity, diabetes mellitus, and neurogenic deafness. Since this first report, further features of the syndrome have been described, including hypertriglyceridaemia, 2 3 hepatic dysfunction, 4 5 hyperuricaemia, 2 3 6 slowly progressive chronic nephropathy, 3 hypothyroidism, 7 male hypogonadism, 2 6 androgenetic alopecia, 2 3 growth retardation, 2 8 scoliosis, 3 6 hyperostosis frontalis interna, 3 6 acanthosis nigricans, 3 6 9 cataract, 9 and dilated cardiomyopathy. 10 11 In an Acadian kindred, a putative gene involved in the pathophysiology of Alström syndrome has recently been mapped to the short arm of chromosome 2. [...]improvement of diabetes resulted in an improvement of the lipoprotein metabolism as well. [...]the observed striking intrafamilial phenotypic differences in lipoprotein metabolism were caused by differences in the decompensation of the diabetes, rather than by primary problems of lipoprotein metabolism.