Table 1.

Probands, Phenotypes, and Genotypes in Six MSSD-Affected Families

Families			Phenotypes						BHLHA9 Genotypes
Family, Origin	Affected Subjects	Subject	Affection Status	Mesoaxial Reduction of Finger	Short Index Finger	Clinodactyly	Preaxial Toes Webbing	Mesoaxial (2/3 Toes) Webbing	Alleles BHLHA9 c.211	Alleles BHLHA9 c.218	Alleles BHLHA9 c.224
Fam1, Pakistan, Punjab	5M, 3F	IV-7	A	++	++	++	++	–	GG	GG	GG
		IV-5	A	++	++	+	++	–	GG	GG	GG
		IV-1	A	++	++	++	–	–	GG	GG	GG
		IV-2	A	++	++	++	++	–	GG	GG	GG
		II-1	N	–	–	–	–	–	AG	GG	GG
		II-2	N	–	–	–	–	–	AG	GG	GG
		II-5	N	–	–	–	–	–	AG	GG	GG
		III-5	N	–	–	–	–	–	AG	GG	GG
		IV-10	N	–	–	–	–	–	AG	GG	GG
Fam2, Turkey	2M, 1F	IV-3	N	–	–	–	–	–	AA	CG	GG
		IV-2	N	–	–	–	–	–	AA	CG	GG
		V-3	A	++	++	++	++	–	AA	CC	GG
		V-2	N	–	–	–	–	–	AA	GG	GG
		V-1	A	++	++	–	++	–	AA	CC	GG
		III-6	N	–	–	–	–	–	AA	CG	GG
		IV-4	A	++	++	++	++	–	AA	CC	GG
		III-7	N	–	–	–	–	–	AA	CG	GG
Fam3, Turkey	1M, 1F	III-1	N	–	–	–	–	–	AA	CG	GG
		III-2	N	–	–	–	–	–	AA	CG	GG
		IV-2	A	++	++	++	++	–	AA	CC	GG
		IV-3	N	–	–	–	–	–	AA	GG	GG
		IV-4	A	++	++	++	–	+	AA	CC	GG
		IV-5	N	–	–	–	–	–	AA	CG	GG
Fam4, Italy, central	1F	IV-1	A	++	++	++	–	+	AA	GG	TT
		III-1	N	–	–	–	–	–	AA	GG	TG
		V-1	N	–	–	–	–	–	AA	GG	TG
Fam5, Pakistan, Sindh	1F	I-2	N	–	–	–	–	–	AA	CG	GG
		II-1	A	++	++	++	–	–	AA	CC	GG
Fam6, Pakistan, KPK	1M, 1F	III-4	A	++	++	++	–	++	GG	GG	GG

Abbreviations are as follows: A, affected; N, not affected; M, male; F, female; ++, bilateral; +, unilateral.