Electronic letters
Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs
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EDITOR
Alström syndrome is a rare, autosomal
recessive disorder, which was first described by Alström
et al1 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 2.12 In a
kindred of North African origin, this locus has been refined to
2p12-13.13
Here, we report three sibs with Alström syndrome from a consanguineous kindred of Turkish origin.
Fasting blood samples were drawn and lipid and lipoprotein
concentrations as well as routine laboratory parameters were determined at the Department Central Laboratory, University Clinics, Basel.
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