ArticleInternational journal of legal medicine2014
PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.
Article in International journal of legal medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- Sudden Infant Death Syndrome (SIDS): State of the Art and Future Directions.International journal of medical sciences · 2024Review
- Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study.International journal of legal medicine · 2023Article
- Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.PloS one · 2022Article
- Article
- A Common 3'UTR Variant of theFrontiers in neurology · 2021Article
- Genetic Factors Underlying Sudden Infant Death Syndrome.The application of clinical genetics · 2021Review
- A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases.Journal of pediatric genetics · 2018Review
- Inhalational Anesthetics Induce Neuronal Protein Aggregation and Affect ER Trafficking.Scientific reports · 2018Article
- Novel mutation-deletion in theJournal of genetic syndromes & gene therapy · 2015Article
- Polymorphisms in genes of respiratory control and sudden infant death syndrome.International journal of legal medicine · 2015Article
- That's not it, either-neither polymorphisms in PHOX2B nor in MIF are involved in sudden infant death syndrome (SIDS).International journal of legal medicine · 2015Article
- The genetics of the epilepsies.Current neurology and neuroscience reports · 2015Review
- Indications, advantages and limitations of perinatal postmortem imaging in clinical practice.Pediatric radiology · 2015Review
- Mechanisms of sudden unexplained death in epilepsy.Current opinion in neurology · 2015Review
- The Generation R Study: Biobank update 2015.European journal of epidemiology · 2014Article
- Systems-level perspective of sudden infant death syndrome.Pediatric research · 2014Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Unclassified sudden infant death (USID) is the sudden and unexpected death of an infant that remains unexplained after thorough case investigation including performance of a complete autopsy and review of the circumstances of death and the clinical history. When the infant is below 1 year of age and with onset of the fatal episode apparently occurring during sleep, this is referred to as sudden infant death syndrome (SIDS). USID and SIDS remain poorly understood despite the identification of several environmental and some genetic risk factors. In this study, we investigated genetic risk factors involved in the autonomous nervous system in 195 Dutch USID/SIDS cases and 846 Dutch, age-matched healthy controls. Twenty-five DNA variants from 11 genes previously implicated in the serotonin household or in the congenital central hypoventilation syndrome, of which some have been associated with SIDS before, were tested. Of all DNA variants considered, only the length variation of the polyalanine repeat in exon 3 of the PHOX2B gene was found to be statistically significantly associated with USID/SIDS in the Dutch population after multiple test correction. Interestingly, our data suggest that contraction of the PHOX2B exon 3 polyalanine repeat that we found in six of 160 SIDS and USID cases and in six of 814 controls serves as a probable genetic risk factor for USID/SIDS at least in the Dutch population. Future studies are needed to confirm this finding and to understand the functional effect of the polyalanine repeat length variation, in particular contraction, in exon 3 of the PHOX2B gene.
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