JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation

ConclusionBased on our results, p.Arg229* may be a founder mutation in the Iranian population. The variant has been detected in two out of seven other reportedJAM2-related families who may originate from the Middle East and exhibit an identical haplotype. Even though this particular mutation may not be classified as a founder mutation, it does appear to be a hotspot, given that it has been observed in 45% of the 11JAM2-associated families. Our study expanded the clinical features and mutation spectrum ofJAM2 and revealed that mutations inJAM2 may be more common than previously reported.
Source: Neurological Sciences - Category: Neurology Source Type: research