PMID- 10484772
OWN - NLM
STAT- MEDLINE
DCOM- 19991216
LR  - 20220409
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 11
DP  - 1999 Oct
TI  - Coats' disease of the retina (unilateral retinal telangiectasis) caused by
      somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.
PG  - 2031-5
AB  - Coats' disease is characterized by abnormal retinal vascular development
      (so-called 'retinal telangiectasis') which results in massive intraretinal and
      subretinal lipid accumulation (exudative retinal detachment). The classical form 
      of Coats' disease is almost invariably isolated, unilateral and seen in males. A 
      female with a unilateral variant of Coats' disease gave birth to a son affected
      by Norrie disease. Both carried a missense mutation within the NDP gene on
      chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes
      from males with Coats' disease demonstrated in one a somatic mutation in the NDP 
      gene which was not present within non-retinal tissue. We suggest that Coats'
      telangiectasis is secondary to somatic mutation in the NDP gene which results in 
      a deficiency of norrin (the protein product of the NDP gene) within the
      developing retina. This supports recent observations that the protein is critical
      for normal retinal vasculogenesis.
FAU - Black, G C
AU  - Black GC
AD  - University Department of Medical Genetics and Regional Genetics Service, St
      Mary's Hospital, Manchester M13 OJH, UK. gblack@fs1.cmht.nwest.nhs.uk
FAU - Perveen, R
AU  - Perveen R
FAU - Bonshek, R
AU  - Bonshek R
FAU - Cahill, M
AU  - Cahill M
FAU - Clayton-Smith, J
AU  - Clayton-Smith J
FAU - Lloyd, I C
AU  - Lloyd IC
FAU - McLeod, D
AU  - McLeod D
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Eye Proteins)
RN  - 0 (NDP protein, human)
RN  - 0 (Nerve Tissue Proteins)
SB  - IM
MH  - Amino Acid Substitution
MH  - Blindness/congenital/*genetics
MH  - Child
MH  - Dosage Compensation, Genetic
MH  - Eye Enucleation
MH  - Eye Proteins/*genetics/metabolism/physiology
MH  - Female
MH  - Heteroduplex Analysis
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - Mosaicism/*genetics
MH  - Mutation, Missense
MH  - Neovascularization, Pathologic/genetics
MH  - Neovascularization, Physiologic/*genetics
MH  - Nerve Tissue Proteins/*genetics/metabolism/physiology
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - Retina/*growth & development
MH  - Retinal Detachment/genetics
MH  - Retinal Diseases/*genetics
MH  - Retinal Dysplasia/*genetics
MH  - Retinal Vessels/*growth & development/pathology
MH  - Syndrome
MH  - Telangiectasis/*genetics
MH  - X Chromosome/*genetics
EDAT- 1999/09/15 00:00
MHDA- 1999/09/15 00:01
CRDT- 1999/09/15 00:00
PHST- 1999/09/15 00:00 [pubmed]
PHST- 1999/09/15 00:01 [medline]
PHST- 1999/09/15 00:00 [entrez]
AID - ddc235 [pii]
AID - 10.1093/hmg/8.11.2031 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Oct;8(11):2031-5. doi: 10.1093/hmg/8.11.2031.