R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.
OBJECTIVE
We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene.


METHODS
Family history was collected and all family members underwent routine ophthalmic examination. Venous blood was collected from family members and genomic DNA was extracted. The exons of RS1 were screened by PCR followed by direct sequencing and/or restriction enzyme digestion.


RESULTS
The pedigree of interest was a four-generation family with 52 family members, including seven affected individuals. The proband was a 5-year-old boy showing highly elevated bullous retinoschisis with moderate vitreous hemorrhage in both eyes. Vitrectomy was performed in the left eye of the proband. Five affected males showed large peripheral retinoschisis in both eyes, either involving the macula or combined with foveal stellate cystic change. One of the affected family members showed only a foveal stellate cystic change in both eyes without periphery retinoschisis. Visual acuity of affected individuals ranged from hand motion to 0.4. The R213W mutation in exon 6 of RS1 was identified in all affected individuals, predicting an amino acid substitution of arginine to tryptophan at codon 213.


CONCLUSIONS
Our data show that the R213W mutation in RS1 causes various severities of retinoschisis in a large Chinese family, providing further evidence for X-linked juvenile retinoschisis phenotypic variability.
Xu
Jun
J
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.
Gu
Hong
H
Ma
Kai
K
Liu
Xipu
X
Snellingen
Torkel
T
Sun
Erdan
E
Wang
Ningli
N
Liu
Ningpu
N
D019943:Amino Acid Substitution / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D005654:Fundus Oculi; D050172:Genes, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics; D010375:Pedigree; D041441:Retinoschisis / Q000235:genetics* / Q000601:surgery
D005136:Eye Proteins; C108726:RS1 protein, human
Am J Ophthalmol. 1999 Aug;128(2):179-84
10458173
Mol Vis. 2009;15:833-43
19390641
Hum Mol Genet. 2002 Nov 15;11(24):3097-105
12417531
Invest Ophthalmol Vis Sci. 1998 Aug;39(9):1736-9
9699564
Mol Vis. 2007 Jun 07;13:804-12
17615541
Arch Ophthalmol. 2000 Aug;118(8):1098-104
10922205
Arch Ophthalmol. 1996 Mar;114(3):274-80
8600886
Ophthalmic Genet. 2005 Sep;26(3):111-7
16272055
Mol Vis. 2007 Apr 19;13:611-7
17515881
Br J Ophthalmol. 1995 Jul;79(7):697-702
7662639
Hum Mol Genet. 1998 Jul;7(7):1185-92
9618178
Mol Vis. 2008;14:2321-32
19093009
Jpn J Ophthalmol. 2008 Jan-Feb;52(1):48-51
18369700
Ophthalmic Genet. 1999 Mar;20(1):37-43
10415464
J Child Neurol. 2006 Apr;21(4):331-3
16900931
Vision Res. 2006 Oct;46(22):3845-52
16884758
Doc Ophthalmol. 2008 Mar;116(2):97-109
17987333
Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4342-50
19324861
Invest Ophthalmol Vis Sci. 2001 Mar;42(3):816-25
11222545
Hum Mol Genet. 2000 Jul 22;9(12):1873-9
10915776
Ophthalmic Genet. 1999 Mar;20(1):57-61
10454824
Am J Hum Genet. 1997 May;60(5):1139-49
9150161
Nat Genet. 1997 Oct;17(2):164-70
9326935