Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

✍ Scribed by Yuanhong Ma; Ming-Sun Liu; David Chitayat; Taco Bruin; Ulrike Beisiegel; Pascale Benlian; Luc Foubert; Jean Luc De Gennes; Harald Funke; Ian Forsythe; Shirley Blaichman; Maria Papanikolaou; D. W. Erkelens; John Kastelein; John D. Brunzell; Michael R. Hayden

• Book ID: 102859810
• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 742 KB
• Volume: 3
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.1380030109

✦ Synopsis

Communicated by Ronald G. Worton Mutations in the lipoprotein lipase (LPL) gene are the most common cause of familial chylomicron. emia. Here we define the molecular basis of LPL deficiency in four patients of German, French, Dutch, and Chinese descent. We show that two of the probands of Dutch and Chinese origin have a previously described ArgZ4'His mutation while the patients of German and French descent have a novel Arg243Cys substitution in their LPL gene. Haplotype analysis is in favour of two separate origins for the Argz43 Cys substitution which together with the Argz43His mutation would implicate three recurrent mutations involving the first and second nucleotides of the codon encoding Arg243 of the LPL gene. The recurrent mutations affecting the first and second nucleotide of CGC coding for the normal Arg residue are support for the high mutability of CpG dinucleotides within the LPL gene.