Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis.
OBJECTIVE
To report two novel point mutations of the XLRS1 gene in two Japanese patients with X-linked juvenile retinoschisis.


METHODS
Observational case reports.


METHODS
The exons, including the flanking introns of XLRS1, were amplified by polymerase chain reaction and analyzed by direct sequencing.


RESULTS
One novel splice donor site mutation (IVS2 + 1g to a) and one missense mutation of exon 6 (Ala211Thr) were found.


CONCLUSIONS
Genetic findings identifying mutations in the XLRS1 gene will lead to earlier and more accurate diagnosis of X-linked juvenile retinoschisis.
Inoue
Yumiko
Y
Department of Ophthalmology and Visual Science, Osaka University Graduate School of Medicine, Japan.
Yamamoto
Shuji
S
Inoue
Tomoyuki
T
Fujikado
Takashi
T
Kusaka
Shunji
S
Ohguro
Nobuyuki
N
Ohji
Masahito
M
Tano
Yasuo
Y
D001483:Base Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D041441:Retinoschisis / Q000235:genetics* / Q000473:pathology
D005136:Eye Proteins; C108726:RS1 protein, human