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Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs
  1. URS ZUMSTEG*,
  2. PATRICK Y MULLER*,
  3. ANDRÉ R MISEREZ*
  1. * Research Group Genetics of Lipid Metabolism & Atherosclerosis, Department of Research, University Clinics, Hebelstrasse 20, CH-4031 Basel, Switzerland
  2. University Children's Hospital, Römergasse 8, CH-4058 Basel, Switzerland
  3. Division of Endocrinology, Diabetology, and Clinical Nutrition, Department of Internal Medicine, Basel University Clinics, Petersgraben 4, CH-4031 Basel, Switzerland
  1. Dr Miserez, andre-r.miserez{at}unibas.ch

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Editor—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,3hypothyroidism,7 male hypogonadism,2 6androgenetic 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. C-peptide, insulin, islet cells, autoantibodies, growth hormone, insulin-like growth factor (IGF)-1, and insulin-like growth factor binding protein (IGF-BP)-3 measurements were performed at the Department of Research, University Clinics, Basel and at the Laboratory Professor Girard, Basel.

The two frequent apolipoprotein E amino acid polymorphisms C112R (ε4 allele) and R158C (ε2 allele) were identified by PCR amplification and subsequent digestion with HhaI or its isoschizomer CfoI as previously described.14 15

For PCR amplification of the microsatellite markers D2S370, D2S2397, D2S285, D2S2152, D2S292, D2S2111, D2S2110, D2S286, D2S329, and D2S2161 on chromosome 2p12-13, oligonucleotides as published in the 1996 Généthon Microsatellite Maps were used.16 Genomic DNA (100 ng) was PCR amplified (94°C, 60 seconds; 55°C, 30 seconds; 72°C, 60 seconds; …

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