Identification of a Novel Rpgrip1 Mutation in an Iranian Family With Leber Congenital Amaurosis by Exome Sequencing

Identification of a Novel Rpgrip1 Mutation in an Iranian Family With Leber Congenital Amaurosis by Exome Sequencing Publisher Pubmed

Imani S^{1, 2, 3} ; Cheng J¹ ; Mobasherjannat A^{3, 4} ; Wei C¹ ; Fu S^{5, 6} ; Yang L¹ ; Jadidi K⁷ ; Khosravi MH⁴ ; Mohazzabtorabi S⁸ ; Shasaltaneh MD^{9, 10} ; Li Y⁶ ; Chen R⁶ ; Fu J^{1, 2}

Show Affiliations

1. Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Southwest Medical University, Luzhou, Sichuan, China
2. Hunan Normal University Medical College, Changsha, Hunan, China
3. Chemical Injuries Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran
4. Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, Iran
5. The Honors College, University of Houston, Houston, TX, United States
6. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States
7. Department of Ophthalmology, Baqiyatallah University of Medical Sciences, Tehran, Iran
8. Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran
9. Laboratory of Neuro-organic Chemistry, Institute of Biochemistry and Biophysics (IBB), University of Tehran, Tehran, Iran
10. Laboratory of Systems Biology and Bioinformatics (LBB), Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran

Source: Journal of Cellular and Molecular Medicine Published:2018

Abstract

Leber congenital amaurosis (LCA) is a heterogeneous, early-onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease-causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus. Target exome sequencing was performed to analyse the proband DNA. A homozygous novel c. 2889delT (p.P963 fs) mutation in the RPGRIP1 gene was identified, which was likely the deleterious and pathogenic mutation in the proband. Structurally, this mutation lost a retinitis pigmentosa GTPase regulator (RPGR)-interacting domain at the C-terminus which most likely impaired stability in the RPGRIP1 with the distribution of polarised proteins in the cilium connecting process. Sanger sequencing showed complete co-segregation in this pedigree. This study provides compelling evidence that the c. 2889delT (p.P963 fs) mutation in the RPGRIP1 gene works as a pathogenic mutation that contributes to the progression of LCA. © 2017 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

Related Docs

View other Related Docs

1. Targeted Gene Panel Sequencing for Early-Onset Inflammatory Bowel Disease and Chronic Diarrhea, Inflammatory Bowel Diseases (2017)

2. Iranome: A Catalog of Genomic Variations in the Iranian Population, Human Mutation (2019)

3. Genetic Change Investigation in Dock1 Gene in an Iranian Family With Sign and Symptoms of Temporomandibular Joint Disorder (Tmd), Clinical Oral Investigations (2024)

4. Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel Crb1 (Crumbs Homologue 1) Mutations in Iranian Retinal Degeneration Families, Iranian Biomedical Journal (2017)

5. Bi-Allelic Loss of Function Variant in the Nrcam Gene Is Associated With Motor-Predominant Axonal Polyneuropathy; the Second Report, Molecular Genetics and Genomic Medicine (2023)

6. Double Heterozygosity of Brca2 and Stk11 in Familial Breast Cancer Detected by Exome Sequencing, Iranian Journal of Public Health (2015)

7. Whole-Transcriptome Analysis by Rna Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity, Clinical Chemistry (2021)

8. The Human Cib1-Ever1-Ever2 Complex Governs Keratinocyte-Intrinsic Immunity to Β-Papillomaviruses, Journal of Experimental Medicine (2018)

Experts (# of related papers)

View all Related Experts

Nafiseh Sheykhbahaei (1)

Reza Malekzadeh (1)

Style	Citing Format
MLA	Imani S, et al.. "Identification of a Novel Rpgrip1 Mutation in an Iranian Family With Leber Congenital Amaurosis by Exome Sequencing." Journal of Cellular and Molecular Medicine, vol. 22, no. 3, 2018, pp. 1733-1742.
APA	Imani S, Cheng J, Mobasherjannat A, Wei C, Fu S, Yang L, Jadidi K, Khosravi MH, Mohazzabtorabi S, Shasaltaneh MD, Li Y, Chen R, Fu J (2018). Identification of a Novel Rpgrip1 Mutation in an Iranian Family With Leber Congenital Amaurosis by Exome Sequencing. Journal of Cellular and Molecular Medicine, 22(3), 1733-1742.
Chicago	Imani S, Cheng J, Mobasherjannat A, Wei C, Fu S, Yang L, Jadidi K, et al.. "Identification of a Novel Rpgrip1 Mutation in an Iranian Family With Leber Congenital Amaurosis by Exome Sequencing." Journal of Cellular and Molecular Medicine 22, no. 3 (2018): 1733-1742.
Harvard	Imani S et al. (2018) 'Identification of a Novel Rpgrip1 Mutation in an Iranian Family With Leber Congenital Amaurosis by Exome Sequencing', Journal of Cellular and Molecular Medicine, 22(3), pp. 1733-1742.
Vancouver	Imani S, Cheng J, Mobasherjannat A, Wei C, Fu S, Yang L, et al.. Identification of a Novel Rpgrip1 Mutation in an Iranian Family With Leber Congenital Amaurosis by Exome Sequencing. Journal of Cellular and Molecular Medicine. 2018;22(3):1733-1742.
BibTex	@article{ author = {Imani S and Cheng J and Mobasherjannat A and Wei C and Fu S and Yang L and Jadidi K and Khosravi MH and Mohazzabtorabi S and Shasaltaneh MD and Li Y and Chen R and Fu J}, title = {Identification of a Novel Rpgrip1 Mutation in an Iranian Family With Leber Congenital Amaurosis by Exome Sequencing}, journal = {Journal of Cellular and Molecular Medicine}, volume = {22}, number = {3}, pages = {1733-1742}, year = {2018} }
RIS	TY - JOUR AU - Imani S AU - Cheng J AU - Mobasherjannat A AU - Wei C AU - Fu S AU - Yang L AU - Jadidi K AU - Khosravi MH AU - Mohazzabtorabi S AU - Shasaltaneh MD AU - Li Y AU - Chen R AU - Fu J TI - Identification of a Novel Rpgrip1 Mutation in an Iranian Family With Leber Congenital Amaurosis by Exome Sequencing JO - Journal of Cellular and Molecular Medicine VL - 22 IS - 3 SP - 1733 EP - 1742 PY - 2018 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract