Blog

A new interesting article has been published in J Curr Ophthalmol. 2019 Jul 27; 31(4):458-462. doi: 10.1016/j.joco.2019.07.002. eCollection 2019 Dec. Case Reports and titled:

A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report.

Authors of this article are:

Salehi Chaleshtori AR, Garshasbi M, Salehi A.

A summary of the article is shown below:

Purpose: To investigate genetic mutation(s) underlying retinal degeneration in a male patient.Methods: A seven-year-old male patient was referred to receive genetic counseling and molecular testing. Clinical examination was performed by slit-lamp examination and electroretinography (ERG). Molecular testing was undertaken through arrayed-primer extension (APEX) and Sanger sequencing.Results: Slit-lamp examination and flat ERG were in favor of Leber congenital amaurosis (LCA) disease as well as fundus findings. The genetic screening revealed two novel homozygote deletion and duplication variants in intron 15 and exon 16 of the GUCY2D gene. Segregation analysis in the family supports the probable contribution of these two novel mutations in clinical representations of the patient.Conclusions: This report provides more information about LCA disease and its relevant mutations in Iran. Considering the overlapping phenotypes observed in retinal degenerative disorders, comprehensive molecular testing is needed for precise diagnosis.© 2019 Iranian Society of Ophthalmology. Production and hosting by Elsevier B.V.

Check out the article’s website on Pubmed for more information:

[link-preview url=https://www.ncbi.nlm.nih.gov/pubmed/31844802 forceshot=true]

This article is a good source of information and a good way to become familiar with topics such as: Deletion; Duplication; GUCY2D mutation; Iran; LCA.

---

NativeFolder: The Only Bacterial Culture Medium for the Expression of Soluble Proteins

---

Interference Test Kit for Assay Validation

---

Rheumatoid Factor Interference Blocker

---

New Antibodies from MOLECULAR DEPOT

---

New Proteins from MOLECULAR DEPOT

---

New Chemicals from MOLECULAR DEPOT