title: Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.
abstract: The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies. The regional location of the genetic mutation causing NHS is unknown. The authors applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to five multigenerational kindreds in which NHS segregated. Provisional linkage is established to two DNA markers--DXS143 at Xp22.3-p22.2 and DXS43 at Xp22.2. Regional localization of NHS will provide potential antenatal diagnosis in families at risk for the disease and will enhance understanding of the multifaceted genetic defects.
authors.affiliation: Department of Ophthalmology, Cullen Eye Institute, Houston, TX 77030.
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
authors.forename: R L
authors.initials: RL
authors.lastname: Nussbaum
authors.forename: D
authors.initials: D
authors.lastname: Stambolian
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D015139:Blotting, Southern; D002386:Cataract / Q000150:complications / Q000151:congenital / Q000235:genetics*; D002460:Cell Line; D002874:Chromosome Mapping; D003316:Corneal Diseases / Q000150:complications / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D009057:Stomatognathic Diseases / Q000150:complications / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA