. 2007 Feb 22;80(4):800–804. doi: 10.1086/513322

Table 1. .

Clinical and Genetic Data on Five Patients with SIX5 Mutations^[Note]

Patient	Branchial Defect	Hearing Loss	Renal Defect	Nucleotide Change	Amino Acid Change
A441	PT^R	-	DK^B	c.472G→A	A158T
A477	CF^B, HM^R, PS^R, PM^R	+^L, ++^R	DK^B, ↓ function	c.886G→A	A296T
A416	ND	ND	ND	c.1093G→A	G365R
A465	CF^B	-	HK^B	c.1655C→T	T552M
A500	CF^B	++^L, +^R	A^L, HK^R	c.1655C→T	T552M

Note.— − = absent, + = affected, ++ = more affected; ^L = left, ^R = right, ^B = bilateral; PT = preauricular tag, DK = dysplastic kidneys, CF = cervical fistulae, HM = hemifacial microsomia, PS = preauricular sinus, PM = pinna malformation, ↓ function = diminished renal function, HK = hypoplastic kidneys, A = agenesis; ND = no data available.