PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
The first mutation in PITPNM3, a human homologue of the Drosophila retinal degeneration (rdgB not not) gene was reported in two large Swedish families with autosomal dominant cone dystrophy. To establish the global impact that PITPNM3 has on retinal degenerations we screened 163 patients from Denmark, Germany, the UK, and USA. Four sequence variants, two missence mutations and two intronic changes were identified in the screen. Thus, mutations in PITPNM3 do not appear to be a major cause of cone or cone-rod dystrophy.
Köhn
Linda
L
Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Sweden.
Kohl
Susanne
S
Bowne
Sara J
SJ
Sullivan
Lori S
LS
Kellner
Ulrich
U
Daiger
Stephen P
SP
Sandgren
Ola
O
Golovleva
Irina
I
D002135:Calcium-Binding Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology*; D016133:Polymerase Chain Reaction; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA
D002135:Calcium-Binding Proteins; D008565:Membrane Proteins; C117885:PITPNM3 protein, human