Novel Bi-Allelic Pde6c Variant Leads to Congenital Achromatopsia

Novel Bi-Allelic Pde6c Variant Leads to Congenital Achromatopsia Publisher Pubmed

Bushehri A¹ ; Zareabdollahi D¹ ; Hashemian H² ; Safavizadeh L³ ; Effati J⁴ ; Khorshid HRK¹

Show Affiliations

1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
2. Department of Ophthalmology, Ophthalmology Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Opthomology, Ophthalmic Research Centre, Shahid Beheshti University (M.C.), Tehran, Iran
4. Meybod Genetic Research Center, Yazd, Iran

Source: Iranian Biomedical Journal Published:2020

Abstract

Background: The clinical phenotyping of patients with achromatopsia harboring variants in PDE6C has poorly been described in the literature. PDE6C encodes the catalytic subunit of the cone phosphodiesterase, which hydrolyzes the cGMP that proceeds with the hyperpolarization of photoreceptor cell membranes, as the final step of the phototransduction cascade. Methods: In the current study, two patients from a consanguineous family underwent full ophthalmologic examination and molecular investigations including WES. The impact of the variant on the functionality of the protein has been analyzed using in silico molecular modeling. Results: The patients identified with achromatopsia segregated a homozygous missense variant (c.C1775A:p.A592D) in PDE6C gene located on chromosome 10q23. Molecular modeling demonstrated that the variant would cause a protein conformational change and result in reduced phosphodiesterase activity. Conclusion: Our data extended the phenotypic spectrum of retinal disorders caused by PDE6C variants and provided new clinical and genetic information on achromatopsia. © 2020, Pasteur Institute of Iran. All Rights Reserved.

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Style	Citing Format
MLA	Bushehri A, et al.. "Novel Bi-Allelic Pde6c Variant Leads to Congenital Achromatopsia." Iranian Biomedical Journal, vol. 24, no. 4, 2020, pp. 257-263.
APA	Bushehri A, Zareabdollahi D, Hashemian H, Safavizadeh L, Effati J, Khorshid HRK (2020). Novel Bi-Allelic Pde6c Variant Leads to Congenital Achromatopsia. Iranian Biomedical Journal, 24(4), 257-263.
Chicago	Bushehri A, Zareabdollahi D, Hashemian H, Safavizadeh L, Effati J, Khorshid HRK. "Novel Bi-Allelic Pde6c Variant Leads to Congenital Achromatopsia." Iranian Biomedical Journal 24, no. 4 (2020): 257-263.
Harvard	Bushehri A et al. (2020) 'Novel Bi-Allelic Pde6c Variant Leads to Congenital Achromatopsia', Iranian Biomedical Journal, 24(4), pp. 257-263.
Vancouver	Bushehri A, Zareabdollahi D, Hashemian H, Safavizadeh L, Effati J, Khorshid HRK. Novel Bi-Allelic Pde6c Variant Leads to Congenital Achromatopsia. Iranian Biomedical Journal. 2020;24(4):257-263.
BibTex	@article{ author = {Bushehri A and Zareabdollahi D and Hashemian H and Safavizadeh L and Effati J and Khorshid HRK}, title = {Novel Bi-Allelic Pde6c Variant Leads to Congenital Achromatopsia}, journal = {Iranian Biomedical Journal}, volume = {24}, number = {4}, pages = {257-263}, year = {2020} }
RIS	TY - JOUR AU - Bushehri A AU - Zareabdollahi D AU - Hashemian H AU - Safavizadeh L AU - Effati J AU - Khorshid HRK TI - Novel Bi-Allelic Pde6c Variant Leads to Congenital Achromatopsia JO - Iranian Biomedical Journal VL - 24 IS - 4 SP - 257 EP - 263 PY - 2020 ER -

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