Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations have been reported; missense, nonsense, large deletions, single base insertion, and duplication. We used Sanger sequencing to analyze a large consanguineous family with three siblings affected with Jalili syndrome, suspected clinically after dental and ophthalmological examination. These patients are carrying a novel homozygous mutation in the splice site acceptor of intron 3 (c.1682-1G > C) in the CNNM4 gene. We compare the findings of the present family to those from literature, in order to further delineate Jalili syndrome.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ejmg.2017.02.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.
Sci Rep
November 2024
Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand.
Jalili syndrome, an autosomal recessive disorder causing cone-rod dystrophy and amelogenesis imperfecta, is a rare genetic disorder impacting visual and dental development. Missense variants (c.1474G > T and c.
View Article and Find Full Text PDFClinical and Histopathologic Findings in Jalili Syndrome.
Ophthalmol Retina
November 2024
Ophthalmology Unit, Unidade Local de Saúde (ULS) Coimbra, Coimbra, Portugal; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal; University of Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, Coimbra, Portugal; University of Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal. Electronic address:
Purpose: To correlate histopathologic findings in an eye with Jalili syndrome with clinical and imaging results available before enucleation.
Design: Case report with histopathologic analysis.
Subjects: Histopathologic analysis of an enucleated eye from a 63-year-old woman diagnosed with Jalili syndrome.
THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.
Retina
November 2024
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE; and.
Purpose: Achromatopsia (ACHM) is a genetically heterogenous relatively stationary congenital autosomal recessive cone disorder characterized typically by photophobia, low vision, nystagmus, hyperopia, grossly normal retinal appearance, and absent photopic responses by full-field electroretinography. Incomplete forms occur as well. This study investigates the genetic basis of clinically suspected ACHM in the United Arab Emirates.
View Article and Find Full Text PDFDentofacial manifestations in a child with Jalili syndrome.
Spec Care Dentist
July 2024
Division of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
Jalili syndrome (JS) (MIM#217080) is a rare autosomal recessive disorder with oculo-dental malformations. The clinical phenotype is characterized by the presence of Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI). Genetic mechanism entails a mutation in the CNNM4, a metal transporter gene located on Chromosome 2q11.
View Article and Find Full Text PDFDimerization of the CNNM extracellular domain.
Protein Sci
February 2024
Department of Biochemistry & Centre de recherche en biologie structurale, McGill University, Montreal, Canada.
Article Synopsis
- Cystathionine- -synthase (CBS)-pair domain transporters (CNNMs) are important for regulating magnesium levels in the body by transporting magnesium ions and affecting a specific ion channel (TRPM7).
- The study presents the crystal structure of the extracellular part of tapeworm CNNM4, revealing it forms a dimer with specific molecular structures and sites for sugar molecules.
- Mutations in the extracellular domain of human CNNM4 hinder its dimerization, and a similar mutation in mouse CNNM2 negatively affects its ability to transport magnesium in cells.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!