A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree With Jalili Syndrome

A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree With Jalili Syndrome Publisher Pubmed

Rahimialiabadi S¹ ; Daftarian N² ; Ahmadieh H² ; Emamalizadeh B¹ ; Jamshidi J³ ; Tafakhori A⁴ ; Ghaedi H¹ ; Noroozi R¹ ; Taghavi S¹ ; Ahmadifard A¹ ; Alehabib E¹ ; Andarva M¹ ; Shokraeian P⁵ ; Atakhorrami M¹ Show All Authors

Rahimialiabadi S¹
Daftarian N²
Ahmadieh H²
Emamalizadeh B¹
Jamshidi J³
Tafakhori A⁴
Ghaedi H¹
Noroozi R¹
Taghavi S¹
Ahmadifard A¹
Alehabib E¹
Andarva M¹
Shokraeian P⁵
Atakhorrami M¹
Darvish H¹

Show Affiliations

1. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3. Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran
4. Department of Neurology, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
5. Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran

Source: Eye (Basingstoke) Published:2016

Abstract

Purpose Jalili syndrome is an autosomal recessive disorder characterized by simultaneous appearance of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). Mutations in CNNM4 gene have been identified as the underlying cause of the syndrome. In this study, we investigated a large affected family to identify the causative mutation.Patients and MethodsA seven-generation family with 24 members affected with Jalili syndrome were enrolled in the study. Comprehensive ophthalmologic and dental examinations were performed on them. The entire coding region of CNNM4 gene was sequenced for detection of potential mutations. Results Ocular examinations showed nystagmus and photophobia along with early onset visual impairment. Fundoscopic exams revealed a spectrum of macular dystrophies in different family members, from macular coloboma and advanced form of beaten bronze macular dystrophy (bull's eye) to milder form of macular thinning along with a range of pigmentary changes and vascular attenuation in the posterior pole and periphery. Scotopic and photopic electro-retinographic responses (ERGs) were extinguished or significantly depressed. Mutation analysis revealed a novel mutation (c.1091delG) in homozygous form in the patients and as a heterozygous form in the normal carrier subjects. Conclusion We identified a novel homozygous deleterious mutation in CNNM4 gene which causes Jalili syndrome. © 2016 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.

Style	Citing Format
MLA	Rahimialiabadi S, et al.. "A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree With Jalili Syndrome." Eye (Basingstoke), vol. 30, no. 11, 2016, pp. 1424-1432.
APA	Rahimialiabadi S, Daftarian N, Ahmadieh H, Emamalizadeh B, Jamshidi J, Tafakhori A, Ghaedi H, Noroozi R, Taghavi S, Ahmadifard A, Alehabib E, Andarva M, Shokraeian P, Atakhorrami M, Darvish H (2016). A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree With Jalili Syndrome. Eye (Basingstoke), 30(11), 1424-1432.
Chicago	Rahimialiabadi S, Daftarian N, Ahmadieh H, Emamalizadeh B, Jamshidi J, Tafakhori A, Ghaedi H, et al.. "A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree With Jalili Syndrome." Eye (Basingstoke) 30, no. 11 (2016): 1424-1432.
Harvard	Rahimialiabadi S et al. (2016) 'A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree With Jalili Syndrome', Eye (Basingstoke), 30(11), pp. 1424-1432.
Vancouver	Rahimialiabadi S, Daftarian N, Ahmadieh H, Emamalizadeh B, Jamshidi J, Tafakhori A, et al.. A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree With Jalili Syndrome. Eye (Basingstoke). 2016;30(11):1424-1432.
BibTex	@article{ author = {Rahimialiabadi S and Daftarian N and Ahmadieh H and Emamalizadeh B and Jamshidi J and Tafakhori A and Ghaedi H and Noroozi R and Taghavi S and Ahmadifard A and Alehabib E and Andarva M and Shokraeian P and Atakhorrami M and Darvish H}, title = {A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree With Jalili Syndrome}, journal = {Eye (Basingstoke)}, volume = {30}, number = {11}, pages = {1424-1432}, year = {2016} }
RIS	TY - JOUR AU - Rahimialiabadi S AU - Daftarian N AU - Ahmadieh H AU - Emamalizadeh B AU - Jamshidi J AU - Tafakhori A AU - Ghaedi H AU - Noroozi R AU - Taghavi S AU - Ahmadifard A AU - Alehabib E AU - Andarva M AU - Shokraeian P AU - Atakhorrami M AU - Darvish H TI - A Novel Mutation and Variable Phenotypic Expression in a Large Consanguineous Pedigree With Jalili Syndrome JO - Eye (Basingstoke) VL - 30 IS - 11 SP - 1424 EP - 1432 PY - 2016 ER -

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