Publication: Mutation analysis of the VMD2 gene in thai families with best macular dystrophy
Issued Date
2008-09-01
Resource Type
ISSN
17445094
13816810
13816810
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2-s2.0-51049096779
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Mahidol University
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SCOPUS
Bibliographic Citation
Ophthalmic Genetics. Vol.29, No.3 (2008), 139-144
Suggested Citation
La Ongsri Atchaneeyasakul, Worapoj Jinda, Natta Sakolsatayadorn, Adisak Trinavarat, Ngamkae Ruangvoravate, Nualanong Thanasombatskul, Wanna Thongnoppakhun, Chanin Limwongse Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. Ophthalmic Genetics. Vol.29, No.3 (2008), 139-144. doi:10.1080/13816810802087394 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/19544
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Title
Mutation analysis of the VMD2 gene in thai families with best macular dystrophy
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Abstract
Background: To identify genetic mutations of the VMD2 gene in two Thai families with Best macular dystrophy. Materials and Methods: Ophthalmic examination including best-corrected visual acuity (BCVA), dilated fundus examination and fundus photography, and electro-oculography (EOG) was performed in two probands and their family members. Mutation screening of the VMD2 gene was performed by single-strand conformation polymorphism (SSCP) analysis followed by direct DNA sequencing of the abnormal exons. Results: The 58-year-old male proband demonstrated typical egg yolk-like macular lesion in both eyes. Mutational screening of VMD2 identified a band shift in exon 7, which was confirmed by direct DNA sequencing to be a G to A transition at position 724 bp. This novel missense mutation resulted in the change of an amino acid valine to methionine and was responsible for the abnormal Arden ratio in the proband's daughter. The second male proband age 25 had a characteristic egg yolk-like macular lesion in the left eye and a scrambled egg appearance in the right. Mutation analysis identified a C to T transition at position 652 bp in exon 6. This reported missense mutation led to an amino acid substitution of cysteine for arginine. The mutation was documented in the maternal grandmother, the mother, as well as the elder sister of the proband. Conclusions: The Val-242-Met mutation is associated with a late-onset visual disturbance and the Arg-218-Cys mutation was associated with marked intra-familial clinical variability of expression. Presymptomatic testing will be available to the family members at risk with high accuracy. Copyright © Informa Healthcare USA, Inc.