Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa.
OBJECTIVE
To determine whether mutations in the MERTK gene are present in Japanese patients with autosomal recessive retinitis pigmentosa (arRP).


METHODS
The coding sequence of all 19 exons and the adjacent flanking intron sequences of the MERTK gene were directly sequenced in 96 unrelated Japanese patients with arRP.


RESULTS
Seventeen sequence variants were found; six missense changes, three isocoding changes, and eight intron changes were also observed. One arRP patient had a novel homozygous Leu12Pro missense mutation in the MERTK gene.


CONCLUSIONS
Mutations in the MERTK gene are relatively rare in Japanese patients with arRP.
Tada
Asako
A
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. a-tada@oph.med.tohoku.ac.jp
Wada
Yuko
Y
Sato
Hajime
H
Itabashi
Toshitaka
T
Kawamura
Miyuki
M
Tamai
Makoto
M
Nishida
Kohji
K
D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005787:Gene Frequency; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007438:Introns; D007930:Leucine; D009154:Mutation; D020125:Mutation, Missense; D011392:Proline; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D000076202:c-Mer Tyrosine Kinase
D011518:Proto-Oncogene Proteins; D011392:Proline; C097072:MERTK protein, human; D020794:Receptor Protein-Tyrosine Kinases; D000076202:c-Mer Tyrosine Kinase; D007930:Leucine