In affected members of 2 unrelated families with PFM2, Wuyts et al. (2000) identified 2 different mutations in the ALX4 gene (605420.0004-605420.0005).
Mavrogiannis et al. (2001) identified 3 distinct mutations in the ALX4 gene (605420.0001-605420.0003) in ... In affected members of 2 unrelated families with PFM2, Wuyts et al. (2000) identified 2 different mutations in the ALX4 gene (605420.0004-605420.0005). Mavrogiannis et al. (2001) identified 3 distinct mutations in the ALX4 gene (605420.0001-605420.0003) in 19 affected individuals from 4 unrelated families with PFM2. Two families demonstrated linkage to chromosome 11p. Among 5 unrelated families and 6 sporadic patients with parietal foramina, Mavrogiannis et al. (2006) identified 2 different heterozygous mutations in the ALX4 gene (605420.0006; 605420.0007) in 1 family and 1 sporadic case, respectively, and 2 different heterozygous mutations in the MSX2 gene in 2 additional families. Combined with previous reports, mutations in the ALX4 or MSX2 genes had been identified in 11 of 13 familial PFM cases and 1 of 6 sporadic PFM cases. There were no significant genotype/phenotype correlations. Mavrogiannis et al. (2006) concluded that PFM caused by ALX4 and MSX2 have a similar prevalence and are clinically indistinguishable.