In affected members of a 3-generation family segregating autosomal dominant brachydactyly type E, short stature, and learning difficulties, Klopocki et al. (2010) performed array-based CGH and identified a 907.68-kb microdeletion on chromosome 12p that encompassed 6 known genes, ... In affected members of a 3-generation family segregating autosomal dominant brachydactyly type E, short stature, and learning difficulties, Klopocki et al. (2010) performed array-based CGH and identified a 907.68-kb microdeletion on chromosome 12p that encompassed 6 known genes, only 1 of which, PTHLH (168470), was known to play a critical role in skeletal development. Klopocki et al. (2010) analyzed the PTHLH gene in 4 unrelated families with BDE and short stature and identified heterozygous missense and nonsense mutations (168470.0001-168470.0004, respectively). None of the affected individuals in the latter 4 families had learning disabilities, suggesting that the deletion of the 5 genes distal to PTHLH most likely accounted for the additional phenotype. Of the 13 total affected individuals, 10 had short stature and 3 were in the normal range. In 2 of the 5 families, affected individuals also had abnormalities of tooth development. Klopocki et al. (2010) noted that the critical region on chromosome 12p proposed for hypertension with brachydactyly (112410) lies approximately 2 Mb distal to the microdeletion identified in this study and does not include the PTHLH gene.