Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

Table 2 The manifestations of Nance-Horan syndrome and X-linked cataract

	Nance-Horan syndrome (John F. Jackson created on 6/15/1995 and Kelly A. Przylepa revised on 6/30/2004)	X-linked cataract
Inheritance	X-linked dominant	X-linked
Face	Long, narrow face	Normal
Ears	Large anteverted pinnae (90% males, 40% females)	Normal
Eyes	Bilateral congenital cataracts (males)	Congenital nuclear cataract in males
	Vision loss, profound (males)	Severe visual impairment in males
	Microcornea	Pronounced microcornea
	Nystagmus	Heterozygous females had posterior suture or posterior stellate cataracts, or a combination of the two, with normal or slight reduction in vision.
	Microphthalmia
	Posterior Y-sutural cataracts (females)
	Normal vision (females)
	Glaucoma (~ 50% of males)
Nose	Prominent nose and nasal bridge	Normal
Teeth	Screwdriver blade-shaped incisors (males and females)	Normal
	Supernumerary maxillary incisors (mesiodens) (~ 65% males)
	Tapered premolar and molar cusps
	Diastema (males and females)
Skeletal	Broad fingers; short fingers	Normal
Heart	Congenital heart defects	Normal
Neurologic	Mild-moderate mental retardation (~ 80% affected males)	Normal
Behavioral Psychiatric Manifestations	Behavioral disturbances Autism
Gene mutation	NHS	NHS

ISSN: 1471-2350