Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO‐SL): a genealogical study of Swedish families of probable Finnish background

• Published in: Clinical Genetics
• Main Authors: Nylander, P.‐O., Drugge, U., Holmgren, G., Adolfsson, R.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 1996
• Subjects: Northern Sweden
• Online Access: http://dx.doi.org/10.1111/j.1399-0004.1996.tb02387.x; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1996.tb02387.x; https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.1996.tb02387.x

Four Swedish families in northern Sweden with polycystic lipomembranous ostodysplasia (PLO‐SL) were studied genealogically. Historical and genealogical data provided evidence for a Finnish origin. Both parents of two of the families could be traced back to Finnish ancestors, and the other two families had a common origin in a region with a known Finnish influence, but without evidence for Finnish ancestry. PLO‐SL is the first rare monogenic disease with an autosomal recessive inheritance in Sweden with a probable Finnish origin.