Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

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.

ISSN: 1750-1172