Alström Syndrome: Mutation Spectrum of ALMS1. Issue 7 (18th May 2015)

• Record Type: Journal Article
• Authors: Marshall, Jan D.; Muller, Jean; Collin, Gayle B.; Milan, Gabriella; Kingsmore, Stephen F.; Dinwiddie, Darrell; Farrow, Emily G.; Miller, Neil A.; Favaretto, Francesca; Maffei, Pietro; Dollfus, Hélène; Vettor, Roberto; Naggert, Jürgen K.
• Is Part Of: Human mutation. Volume 36:Issue 7(2015:Jul.)
• Page Start: 660
• Page End: 668
• Publication Date: 2015-05-18
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22796
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22796-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Alström Syndrome is a rare (&lt;1/1, 000, 000) genetic disorder affecting multiple organ systems. In this report, we expand the spectrum of mutations of <italic>ALMS1</italic> by mutational analysis in a world‐wide cohort of 204 families. We identified 109 novel mutations. We also provide an overview of the 240 known <italic>ALMS1</italic> mutations identified to date and highlighting the allelic heterogeneity of this disorder. Additionally, we analyzed next generation sequencing data from 275 patients for rare or frequent Single Nucleotide Variants (SNVs). <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj11pwmzbz" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>