Sudden Infant Death Syndrome Is Not Associated with the Mutation of PHOX2B Gene, a Major Causative Gene of Congenital Central Hypoventilation Syndrome

Kijima, Kazuki; Sasaki, Ayako; Niki, T; Umetsu, Kazuo; Osawa, Motoki; Matoba, Ryoji; Hayasaka, Kiyoshi

doi:10.1620/tjem.203.65

Cited by 36 publications

(25 citation statements)

References 14 publications

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“…11 In addition to the stable 20-residue repeat, contracted products of 13-and 15-residue repeat were evident, consistent with previous observations. [2][3][4][5] However, no expansions were encountered in both groups.…”

Section: Resultssupporting

confidence: 91%

“…Specimens from all 10 CCHS cases and 42 SIDS cases were described in previous reports. 6,11 It was uncer-tain whether changes of triplets were detected sufficiently by the previous procedures. For the reason, these samples were reanalyzed in this series of experiments.…”

Section: Patients and Dna Preparationmentioning

confidence: 99%

“…6 We subsequently re-examined the potential involvement of CCHS caused by the repeat expansion in forensic cases of sudden infant death syndrome (SIDS). 11 …”

mentioning

confidence: 99%

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Sensitive Detection of Polyalanine Expansions in PHOX2B by Polymerase Chain Reaction Using Bisulfite-Converted DNA

Horiuchi

Sasaki

Osawa

et al. 2005

The Journal of Molecular Diagnostics

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Section: Resultssupporting

confidence: 91%

Section: Patients and Dna Preparationmentioning

confidence: 99%

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Sensitive Detection of Polyalanine Expansions in PHOX2B by Polymerase Chain Reaction Using Bisulfite-Converted DNA

Horiuchi

Sasaki

Osawa

et al. 2005

The Journal of Molecular Diagnostics

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“…The difference in allele frequency did not reach significance because the homozygous GG genotype was more frequent in the control group, suggesting that the effect of this polymorphism on SIDS risk is relevant to presence or absence of the G allele and thus is similar in the homozygous and heterozygous state. Kijima et al [2004] also sequenced the PHOX2B gene in 23 Japanese SIDS cases and 50 controls and identified one polymorphism in exon 2 of PHOX2B and 2 intron 2 polymorphisms, none of which were identified in the Rand et al [2006a] study. These polymorphisms were identified in 1, 1, and 9% of subjects, respectively, but the authors do not clarify if these were identified in SIDS cases or controls.…”

Section: Ans Genes and Sidsmentioning

confidence: 99%

Sudden Infant Death Syndrome: Review of implicated genetic factors

Weese‐Mayer

Ackerman

Marazita

et al. 2007

American J of Med Genetics Pt A

123

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Genetic studies in Sudden Infant Death Syndrome (SIDS) have been motivated by clinical, epidemiological, and/or neuropathological observations in SIDS victims, with subsequent pursuit of candidate genes in five categories: (1) genes for ion channel proteins based on electrocardiographic evidence of prolonged QT intervals in SIDS victims, (2) gene for serotonin transporter based on decreased serotonergic receptor binding in brainstems of SIDS victims, (3) genes pertinent to the early embryology of the autonomic nervous system (ANS) (and with a link to the 5-HT system) based on reports of ANS dysregulation in SIDS victims, (4) genes for nicotine metabolizing enzymes based on evidence of cigarette smoking as a modifiable risk factor for SIDS, and (5) genes regulating inflammation, energy production, hypoglycemia, and thermal regulation based on reports of postnatal infection, low birth weight, and/or overheating in SIDS victims. Evidence for each of these classes of candidate genes is reviewed in detail. As this review indicates, a number of genetically controlled pathways appear to be involved in at least some cases of SIDS. Given the diversity of results to date, genetic studies support the clinical impression that SIDS is heterogeneous with more than one entity and with more than one possible genetic etiology. Future studies should consider expanded phenotypic features that might help clarify the heterogeneity and improve the predictive value of the identified genetic factors. Such features should be evaluated to the extent possible in both SIDS victims and their family members. With 2,162 infants dying from SIDS in 2003 in the U.S. alone, and improved but still imperfect parent and caretaker compliance with known modifiable risk factors for SIDS, it behooves clinicians, researchers, and parents to combine efforts to reach a common goal. The message of the "Back to Sleep" campaign needs to be re-introduced/re-engineered to reach families and caretakers of all ethnic groups. Clinicians and researchers need to gently inform new SIDS parents about the opportunity to contribute tissue to the NICHD-funded University of Maryland Brain and Tissue Bank. By expanding the network of clinicians, scientists, and families working together, and by combined efforts in a collaborative multi-center study of candidate genes and/or genomics, the discovery of the genetic profile of the infant at risk for SIDS can ultimately be determined.

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“…Mutations or polymorphic changes associated with SIDS have been reported in the following: complements (C4A, C4B) (5,6), IL-10 (7), mitochondrial DNA (MTTL1, MTND1), serotonin transporter (5-HTT) (8,9), a gene associated with sex differentiation (TSPYL) (10), and cardiac ion channels (KCNQ1, KCNH2, SCN5A). We have previously investigated the relationship between SIDS and congenital central hypoventilation syndrome (CCHS); however, we failed to find any mutations other than three single nucleotide polymorphisms (SNPs) of PHOX2B, a gene responsible for CCHS, in 48 Japanese SIDS victims (11,12).…”

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Cardiac Ion Channel Gene Mutations in Sudden Infant Death Syndrome

et al. 2008

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Sudden infant death syndrome (SIDS) is multifactorial and may result from the interaction of a number of environmental, genetic, and developmental factors. We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, and SCN5A-F1705S, in four cases; one case had both KCNH2-T895M and SCN5A-G1084S. All mutations were novel except for SCN5A-F532C, which was previously detected in an arrhythmic patient. Heterologous expression study revealed significant changes in channel properties of KCNH2-T895M, SCN5A-G1084S, and SCN5A-F1705S, but did not in KCNQ1-K598R and SCN5A-F532C. Our data suggests that nearly 10% of SIDS victims in Japan have mutations of the cardiac ion channel genes similar to in other countries.

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Sudden Infant Death Syndrome Is Not Associated with the Mutation of PHOX2B Gene, a Major Causative Gene of Congenital Central Hypoventilation Syndrome

Cited by 36 publications

References 14 publications

Sensitive Detection of Polyalanine Expansions in PHOX2B by Polymerase Chain Reaction Using Bisulfite-Converted DNA

Sensitive Detection of Polyalanine Expansions in PHOX2B by Polymerase Chain Reaction Using Bisulfite-Converted DNA

Sudden Infant Death Syndrome: Review of implicated genetic factors

Cardiac Ion Channel Gene Mutations in Sudden Infant Death Syndrome

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