Families | Origins | Genes involved | Location on chromosome 20(hg38) | Size of duplicated region | Clinical phenotype | Reference(s) |
---|---|---|---|---|---|---|
Family 1 | Chinese | BMP2 and 10 more genes (see Table 1) | 4,391,799–10,729,546 | 6.3 Mb | Unilateral thumb and hallux brachydactyly and hypoplastic nail | This study |
Family 2 | Caucasian | Noncoding region, downstream BMP2, HAO1 and TMX4, and the first two exons of PLCB1 | 7,476,899–8,245,726 | 768.8 kb | Wolff–Parkinson–White (WPW) syndrome, no Brachydactyly | PMID:23239491 |
Family 3 | Brazilian | Noncoding region, downstream BMP2 | 6,788,776–6,794,671 | 5.9 kb | Shortening of the second mesophalanx, a medial deviation in the proximal interphalangeal joint and absent of phalangeal flexion creases | PMID: 19327734 PMID: 7390514 |
Family 4 | European | Noncoding region, downstream BMP2 | 6,789,124–6,794,671 | 5.5 kb | Hypoplastic, triangular middle phalanges | PMID: 19327734 |
Family 5 | Chinese | Noncoding region, downstream BMP2 | 6,789,865–6,794,535 | 4.7 kb | Typical phenotypes of BDA2 characterized by medially deviated and shortened index fingers and second toes with abnormal interdigital joint formation | PMID: 24710560 |
Family 6 | Chinese | Noncoding region, downstream BMP2 | 6,790,029–6,794,691 | 4.7 kb | Shortened, ulnar deviated, F2 malformed fingers and toes; F3 F4 syndactyl, variable phenotypes within the family | PMID: 21357617 |
Family 7 | Chinese | Noncoding region, downstream BMP2 | 6,841,807–6,846,477 | 4.7 kb | Deviated, shortened index fingers with triangular-shaped middle phalanges, as well as in second toes, highly consistent within the family | PMID: 29129813 |