Identification of three novel NHS mutations in families with Nance-Horan syndrome.
OBJECTIVE
Nance-Horan Syndrome (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, microphthalmia, and dental abnormalities. The syndrome is caused by mutations in the NHS gene, whose function is not known. The purpose of this study was to identify the frequency and distribution of NHS gene mutations and compare genotype with Nance-Horan phenotype in five North American NHS families.


METHODS
Genomic DNA was isolated from white blood cells from NHS patients and family members. The NHS gene coding region and its splice site donor and acceptor regions were amplified from genomic DNA by PCR, and the amplicons were sequenced directly.


RESULTS
We identified three unique NHS coding region mutations in these NHS families.


CONCLUSIONS
This report extends the number of unique identified NHS mutations to 14.
Huang
Kristen M
KM
F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. huangkri@mail.med.upenn.edu
Wu
Junhua
J
Brooks
Simon P
SP
Hardcastle
Alison J
AJ
Lewis
Richard Alan
RA
Stambolian
Dwight
D
D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D018389:Codon, Nonsense; D018388:Codon, Terminator; D005091:Exons; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008850:Microphthalmos / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*
D018389:Codon, Nonsense; D018388:Codon, Terminator; D008565:Membrane Proteins; C488621:NHS protein, human; D009687:Nuclear Proteins