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R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.

Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N - Mol. Vis. (2010)

Bottom Line: Five affected males showed large peripheral retinoschisis in both eyes, either involving the macula or combined with foveal stellate cystic change.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.

View Article: PubMed Central - PubMed

Affiliation: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.

ABSTRACT

Purpose: 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.

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Related in: MedlinePlus

Representative 2% agarose gel of the restriction enzyme digestion analysis using MspI. The enzyme cut the PCR products into two fragments in unaffected males (I-4, II-20) and the normal female (II-4) but could not cut the products in affected males (II-10, III-22, III-23). Female carriers (I-3, II-6, II-19) exhibit a heterozygous status.
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f5: Representative 2% agarose gel of the restriction enzyme digestion analysis using MspI. The enzyme cut the PCR products into two fragments in unaffected males (I-4, II-20) and the normal female (II-4) but could not cut the products in affected males (II-10, III-22, III-23). Female carriers (I-3, II-6, II-19) exhibit a heterozygous status.

Mentions: All the other 24 family members with genomic DNA available were then analyzed for the R213W missense mutation by restriction enzyme digestion using MspI. The PCR product was digested into two smaller fragments (260 bp and 154 bp) in unaffected individuals and remained undigested (414 bp) in affected individuals (Figure 5). The digestion pattern in female carriers, however, showed three bands, including two digested bands (260 bp and 154 bp) and one undigested band (414 bp), after electrophoresis on the agarose gel (Figure 5). The results from restriction enzyme digestion were further confirmed by direct sequencing of the PCR products in ten key members of the family, including five affected individuals (II-10, II-17,III-20, III-22, and III-23), three female carriers (I-3, I-5, and II-19), and two unaffected individuals (I-4, II-21). The data from the sequencing method were consistent with data from the restriction enzyme digestion method used in all study subjects. Mutation screening results for all 28 family members are given in Table 3.


R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.

Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N - Mol. Vis. (2010)

Representative 2% agarose gel of the restriction enzyme digestion analysis using MspI. The enzyme cut the PCR products into two fragments in unaffected males (I-4, II-20) and the normal female (II-4) but could not cut the products in affected males (II-10, III-22, III-23). Female carriers (I-3, II-6, II-19) exhibit a heterozygous status.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2927431&req=5

f5: Representative 2% agarose gel of the restriction enzyme digestion analysis using MspI. The enzyme cut the PCR products into two fragments in unaffected males (I-4, II-20) and the normal female (II-4) but could not cut the products in affected males (II-10, III-22, III-23). Female carriers (I-3, II-6, II-19) exhibit a heterozygous status.
Mentions: All the other 24 family members with genomic DNA available were then analyzed for the R213W missense mutation by restriction enzyme digestion using MspI. The PCR product was digested into two smaller fragments (260 bp and 154 bp) in unaffected individuals and remained undigested (414 bp) in affected individuals (Figure 5). The digestion pattern in female carriers, however, showed three bands, including two digested bands (260 bp and 154 bp) and one undigested band (414 bp), after electrophoresis on the agarose gel (Figure 5). The results from restriction enzyme digestion were further confirmed by direct sequencing of the PCR products in ten key members of the family, including five affected individuals (II-10, II-17,III-20, III-22, and III-23), three female carriers (I-3, I-5, and II-19), and two unaffected individuals (I-4, II-21). The data from the sequencing method were consistent with data from the restriction enzyme digestion method used in all study subjects. Mutation screening results for all 28 family members are given in Table 3.

Bottom Line: Five affected males showed large peripheral retinoschisis in both eyes, either involving the macula or combined with foveal stellate cystic change.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.

View Article: PubMed Central - PubMed

Affiliation: Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.

ABSTRACT

Purpose: 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.

Show MeSH
Related in: MedlinePlus