Niemann-pick types a/b
Are there certain specific changes/mutations in the SMPD1 gene that are more common?
There are some specific changes/mutations in SMPD1 that are more common to find in people with Niemann-Pick disease (SMPD1-associated), which includes type A and type B. There are 3 specific changes that account for about 90% of the changes/mutations in the Ashkenazi Jewish population that cause type A. These changes are called: p.Arg498Leu, p.Leu304Pro, and p.Phe333SerfsTer52. There is 1 specific change that accounts for almost 90% of the changes/mutations in North African individuals, 100% of individuals from Grand Canaria Island, and 20-30% of people from the USA that cause type B. This change is called p.Arg610del.