Novel homozygous nonsynonymous variant of <i>CNNM4</i> gene in a Chinese family with Jalili syndrome

Li, Huajin; Yan-feng, Huang; Li, Jing; Xie, Maosong

doi:10.1002/mgg3.1860

Cited by 6 publications

(2 citation statements)

References 29 publications

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“…10 the magnesium ion (Mg 2+ ), which is essential for the proper functioning of photoreceptors and teeth. 7,8 Moreover, genetic trigger for the mutation (epigenetic factor) has also been related to the high concentrations of groundwater fluoride. 9 In India, the first case of this condition reported in 2015 in Lucknow, Uttar Pradesh was a 35-yearold male patient with situs inversus, or the contralateral positioning of the major visceral organs, a novel morphological alteration.…”

Section: Introductionmentioning

confidence: 99%

“…The genetic mechanism involves the pathogenic variations of the CNNM4 gene, located on Chromosome 2q11.2 4 . The protein encoded by the CNNM4 gene is believed to be involved in metal ion transport specifically that of the magnesium ion (Mg 2+ ), which is essential for the proper functioning of photoreceptors and teeth 7,8 . Moreover, genetic trigger for the mutation (epigenetic factor) has also been related to the high concentrations of groundwater fluoride 9 .…”

Section: Introductionmentioning

confidence: 99%

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Dentofacial manifestations in a child with Jalili syndrome

Ravi,

Karthikeyan,

Tewari

et al. 2023

Special Care in Dentistry

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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 2q11.2. A high fluoride concentration in groundwater has also been identified as an epigenetic factor in this syndrome. JS draws the attention of dentists due to its distinct oral manifestations. To the best of our knowledge, this is the first genetically confirmed pediatric case report from the Indian subcontinent emphasizing the clinical and radiographic features of this condition and its management in a 6‐year‐old child.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Dentofacial manifestations in a child with Jalili syndrome

Ravi,

Karthikeyan,

Tewari

et al. 2023

Special Care in Dentistry

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Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome

Yan-feng

et al. 2022

Molec Gen & Gen Med

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Functional and pathogenic insights into CNNM4 variants in Jalili syndrome

Rattanapornsompong,

Rinkrathok,

Sriwattanapong

et al. 2024

Sci Rep

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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.1475G > A) previously identified in patients with Jalili syndrome have been linked to functional impairment of CNNM4 , however, the biological consequences of these pathogenic variants remain largely unexplored. In this study, we investigated the functional implications of these CNNM4 missense variants, which correspond to p.(Gly492Cys) and p.(Gly492Asp) substitutions within the CBS domain of the CNNM4 protein. Our findings demonstrated that these variants exhibit significantly reduced protein stability and increased mRNA decay rates compared with wild type. Despite exhibiting normal Mg 2+ localization, the mutant proteins demonstrated significantly reduced Mg²⁺ extrusion activity. This suggests that the pathogenic mechanism underlying Jalili syndrome associated with these variants likely involves decreased mRNA and/or protein stability, rather than mislocalization. Our study provides valuable insights into the interplay between genetic variations, molecular stability, and functional consequences in the context of CNNM4 -related disorders, highlighting the importance of CNNM4 -mediated Mg²⁺ transport in Jalili syndrome. Further investigation into the mechanisms regulating CNNM4 expression and protein stability may reveal potential therapeutic avenues. Supplementary Information The online version contains supplementary material available at 10.1038/s41598-024-80720-8.

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Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome

Abstract: The characteristic features of Jalili syndrome are Cone-rod dystrophy (CRD) and

Cited by 6 publications

References 29 publications

Dentofacial manifestations in a child with Jalili syndrome

Dentofacial manifestations in a child with Jalili syndrome

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome

Functional and pathogenic insights into CNNM4 variants in Jalili syndrome

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