PMID- 12543751
OWN - NLM
STAT- MEDLINE
DCOM- 20030227
LR  - 20190501
IS  - 0007-1161 (Print)
IS  - 1468-2079 (Electronic)
IS  - 0007-1161 (Linking)
VI  - 87
IP  - 2
DP  - 2003 Feb
TI  - A clinical and molecular genetic study of a rare dominantly inherited syndrome 
      (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior 
      staphyloma.
PG  - 197-202
AB  - AIM: To phenotype and genetically map the disease locus in a family presenting 
      with autosomal dominant microcornea, rod-cone dystrophy, cataract, and posterior 
      staphyloma. METHODS: Six affected and three unaffected members of the pedigree 
      were examined. All individuals provided a history and underwent a full clinical 
      examination with A-scan and B-scan ultrasonography and electrophysiological 
      testing where appropriate. PCR based microsatellite marker genotyping using a 
      positional candidate gene approach was then performed on DNA samples extracted 
      from venous blood provided by each subject. RESULTS: The disorder is inherited as 
      an autosomal dominant trait with variable expressivity and has a complex 
      phenotype. Affected individuals had bilateral microcornea, pulverulent-like lens 
      opacities, a rod-cone dystrophy and posterior staphyloma (MRCS). Using a 
      positional candidate gene approach, the authors have evidence suggestive of 
      linkage of this disorder to a region on 11q13 within the nanophthalmos 1 (NNO1) 
      genetic interval. The small family size militates against achieving a LOD score 
      of 3, but the haplotype data and the position of the putative MRCS locus within a 
      known nanophthalmos locus are suggestive of linkage. A candidate gene within this 
      region (ROM1) was screened and no mutations were found in affected members of the 
      family. CONCLUSION: This rare developmental disorder has some phenotypic 
      similarities to nanophthalmos and possibly maps to a locus within the genetic 
      interval encompassing the NNO1 locus. Screening of candidate genes within this 
      region continues.
FAU - Reddy, M A
AU  - Reddy MA
AD  - Institute of Ophthalmology, London, UK. mareddy@doctors.org.uk
FAU - Francis, P J
AU  - Francis PJ
FAU - Berry, V
AU  - Berry V
FAU - Bradshaw, K
AU  - Bradshaw K
FAU - Patel, R J
AU  - Patel RJ
FAU - Maher, E R
AU  - Maher ER
FAU - Kumar, R
AU  - Kumar R
FAU - Bhattacharya, S S
AU  - Bhattacharya SS
FAU - Moore, A T
AU  - Moore AT
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PT  - Randomized Controlled Trial
PL  - England
TA  - Br J Ophthalmol
JT  - The British journal of ophthalmology
JID - 0421041
RN  - 0 (Genetic Markers)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Cataract/*genetics
MH  - Child
MH  - Chromosome Disorders/*genetics
MH  - Cornea/*abnormalities
MH  - DNA/analysis
MH  - Female
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/genetics
MH  - Pedigree
MH  - Phenotype
MH  - Retinitis Pigmentosa/*genetics
MH  - Scleral Diseases/*genetics
MH  - Syndrome
PMC - PMC1771505
EDAT- 2003/01/25 04:00
MHDA- 2003/02/28 04:00
PMCR- 2006/02/01
CRDT- 2003/01/25 04:00
PHST- 2003/01/25 04:00 [pubmed]
PHST- 2003/02/28 04:00 [medline]
PHST- 2003/01/25 04:00 [entrez]
PHST- 2006/02/01 00:00 [pmc-release]
AID - 0870197 [pii]
AID - 10.1136/bjo.87.2.197 [doi]
PST - ppublish
SO  - Br J Ophthalmol. 2003 Feb;87(2):197-202. doi: 10.1136/bjo.87.2.197.