A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

BMC Medical Genetics

Table 1 Clinical features of affected and carrier members of the NHS family

Disease phenotype		II:5 (affected)	III:1 (affected)	II:2 (carrier)	III:7 (carrier)
Ocular features	Bilateral congenital cataract	+	+	+	+
	Microcornea	+	+	+	+
	Nystagmus	+	+	+	+
	Microphthalmia	-	-	-	-
	High myopia	+	+	+	+
	Strabismus	+	+	+	+
Non-ocular features	Brachymetacarpia	+	+	+	+
	Prominent nose	+	-	-	-
	Long and narrow face	+	-	-	-
	Diastema	NA	+	NA	+
	Mental retardation	-	+	-	-

ISSN: 1471-2350