“…The c.10775delC (p.Thr3592Lysfs * 6) mutation in exon 16 was the most frequently identified, with a common founder suggested for persons of British descent [Marshall et al, 2007b]. Subsequently, the wider incorporation of automated sequencing to genotype patients with ALMS has uncovered additional mutations in exon 5 [Paisey et al, 2014;Casey et al, 2014], exon 11 [Taşdemir et al, 2012], exon 12 [Marshall et al, 2007b], exon 18 [Marshall et al, 2007b;Malm et al, 2008], exon 20 [Casey et al, 2014], and intronic regions [Bond et al, 2005;Aldahmesh et al, 2009;Sanyoura et al, 2014;Ozantürk et al, 2014].…”