ArticleHuman mutation2021
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- The PACT Network: PRL, ARL, CNNM, and TRPM Proteins in Magnesium Transport and Disease.International journal of molecular sciences · 2025Review
- Two novel variants inFrontiers in genetics · 2025Article
- Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.Scientific reports · 2024Article
- PRL-1/2 phosphatases control TRPM7 magnesium-dependent function to regulate cellular bioenergetics.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Structural and functional comparison of magnesium transporters throughout evolution.Cellular and molecular life sciences : CMLS · 2022Review
- The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone.International journal of molecular sciences · 2022Article
- Rare hypomagnesemia, seizures, and mental retardation in a 4-month-old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review.Molecular genetics & genomic medicine · 2022Article
- Clinical and genetic approach to renal hypomagnesemia.Biomedical journal · 2022Review
- NovelFrontiers in genetics · 2022Article
- Hereditary kidney diseases associated with hypomagnesemia.Kidney research and clinical practice · 2021Article
- Crystal structure of an archaeal CorB magnesium transporter.Nature communications · 2021Article
- The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).Human mutation · 2021Article
- Article
- Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
22 authors at 15 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early recognition of patients. In this study, we established the largest cohort of HSMR to date, aiming to improve recognition and diagnosis of this complex disorder. Eleven novel variants in CNNM2 were identified in nine single sporadic cases and in two families with suspected HSMR syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.