Table 2.
Summary of clinical findings in patients/carriers with duplications/triplications involving BHLHA9
| SHFM (+) patients | LBD (+) patients | Patient ratio* | LBD (+) families | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SH | SF | P -value | U-LBD | L-LBD | P -value | Male | Female | P -value | Trip | Dup | P -value | |
| This study | 41/42 | 17/42 | 6.2 × 10−9 | 0/42 | 13/42 | 4.1 × 10−5 | 26/38 | 16/26 | 0.60 | 4/5 | 16/22 | 0.047 |
| Previous studies | 63/84 | 23/84 | 8.6 × 10−10 | 11/91 | 42/91 | 5.7 × 10−7 | 68/114 | 31/79 | 5.7 × 10−3 | … | … | … |
| Sum | 104/126 | 40/126 | 1.1 × 10−16 | 11/133 | 55/133 | 3.0 × 10−10 | 94/152 | 47/105 | 7.6 × 10−3 | … | … | … |
SHFM: split-hand/foot malformation; SH: split hand; SF: split foot; LBD: long bone deficiency; U: upper; L: lower; Trip: triplication; and Dup: duplication.
In the previous studies, patients without detailed phenotypic description and those of unknown sex have been excluded (3–9).
*The ratio between patients with limb malformations and patients/carriers with duplications/triplications, i.e. the number of patients over the number of patients plus carriers.