Iranian Biomedical Journal
مجله بیومدیکال ایران
IBJ
Basic Sciences
http://ibj.pasteur.ac.ir
1
admin
1028-852X
2008-823X
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10.61186/ibj
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8888
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en
jalali
1399
4
1
gregorian
2020
7
1
24
4
online
1
fulltext
en
Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia
Molecular Genetics & Genomics
Molecular Genetics & Genomics
مقاله موردی
Case Report
<strong>Background:</strong> The clinical phenotyping of patients with achromatopsia harboring variants in phosphordiesterase 6C (<em>PDE6C</em>) has poorly been described in the literature. <em>PDE6C</em> encodes the catalytic subunit of the cone phosphodiesterase, which hydrolyzes the cyclic guanosine monophosphate that proceeds with the hyperpolarization of photoreceptor cell membranes, as the final step of the phototransduction cascade. <strong>Methods:</strong> 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 <em>in silico</em> molecular modeling. <strong>R</strong><strong>esults:</strong> The patients identified with achromatopsia segregated a homozygous missense variant (c.C1775A:p.A592D) in <em>PDE6C</em> gene located on chromosome 10q23. Molecular modeling demonstrated that the variant would cause a protein conformational change and result in reduced phosphodiesterase activity. <strong>Conclusion:</strong> Our data extended the phenotypic spectrum of retinal disorders caused by <em>PDE6C</em> variants and provided new clinical and genetic information on achromatopsia.
Achromatopsia, PDE6C, Whole exome sequencing
257
263
http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-809&slc_lang=en&sid=1
Ata
Bushehri
100319475328460054441
100319475328460054441
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Davood
Zare-Abdollahi
100319475328460054442
100319475328460054442
No
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Hesam
Hashemian
100319475328460054443
100319475328460054443
No
Department of Ophthalmology, Ophthalmology Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran
Ladan
Safavizadeh
100319475328460054444
100319475328460054444
No
Department of Opthomology, Ophthalmic Research Centre, Shahid Beheshti University (M.C.), Tehran, Iran
Jalil
Effati
100319475328460054445
100319475328460054445
No
Meybod Genetic Research Center, Yazd, Iran
Hamid Reza
Khorram Khorshid
100319475328460054446
100319475328460054446
Yes
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran