Searching for genomic variants in IGF2 and CDKN1C in Silver–Russell syndrome patients

Obermann, Caitriona; Meyer, Esther; Prager, Sebastian; Tomiuk, Jürgen; Wollmann, H; Eggermann, Thomas

doi:10.1016/j.ymgme.2004.04.008

Cited by 23 publications

(18 citation statements)

References 12 publications

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“…There are other differentially methylated regions in IGF2/ H19 (H19 promoter, IGF2 DMR2, CTCF site 1-5) and human chromosome 11p15.5 cluster contains other imprinted gene (KCNQ1OT1, CDKN1C) that control growth and development (24,25). Further, three systems, including DNA methylation, RNA-associated silencing and histone modification, are used to initiate and sustain epigenetic silencing.…”

Section: Discussionmentioning

confidence: 99%

Paternal Allele of IGF2 Gene Haplotype CTG Is Associated With Fetal and Placental Growth in Japanese

et al. 2009

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IGF-II associates with feto-placental growth in rodent and human. We determined three tag-single nucleotide polymorphisms (SNPs) to investigate haplotype frequency of IGF2 relative to size at birth in 134 healthy Japanese infants. In addition, a total of 276 healthy infants were investigated to determine whether common genetic variation of IGF2 might contribute to feto-placental growth using haplotype analysis. Further, quantitative methylation analysis of the IGF2/H19 was performed using the MassARRAY Compact system. In the initial study, the frequency of haplotype CTG from the paternal allele in small for date (SFD) infants was significantly higher than that in non-SFD infants (p ϭ 0.03). In a second study, the CTG haplotype infants exhibited significantly lower birth length, weight, and placental weight compared with non-CTG infants. Further, the number of infants less than Ϫ1.5 SD (SD) birth weight in CTG haplotype was higher than those in non-CTG infants. There was no significant difference in the methylation status of H19/IGF2 in the two haplotypes. In conclusion, inheriting the IGF2 CTG haplotype from a paternal allele results in reduced feto-placental growth, but it is not associated with the methylation status of IGF2/H19.

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Section: Discussionmentioning

confidence: 99%

Paternal Allele of IGF2 Gene Haplotype CTG Is Associated With Fetal and Placental Growth in Japanese

et al. 2009

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“…Maternally transmitted SRS was described in a four-generation family with a CDKN1C gain-of-function mutation 60 , and paternally transmitted SRS in a family with an IGF2 loss-of-function mutation 61 . However, no additional mutations have been reported to date in sporadic or familial cases of SRS 60,62,63 . Sequence analysis of either gene might be considered, particularly in familial cases of SRS where the inheritance pattern is consistent; however, coding variants in these genes are rare 60,62,63 .…”

Section: Additional Testingmentioning

confidence: 99%

“…However, no additional mutations have been reported to date in sporadic or familial cases of SRS 60,62,63 . Sequence analysis of either gene might be considered, particularly in familial cases of SRS where the inheritance pattern is consistent; however, coding variants in these genes are rare 60,62,63 .…”

Section: Additional Testingmentioning

confidence: 99%

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

et al. 2016

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“…For example, several SRS families were identified with maternal duplications of chromosome 11p15, but without any apparent genetic mutations. (22) However, so far no causative genes had been pinpointed at the different candidate chromosomal locations. The novel studies now indicate that epigenetic modifications at the IGF2-H19 domain are causally involved in Silver-Russell Syndrome.…”

Section: Introductionmentioning

confidence: 99%

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

2006

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Searching for genomic variants in IGF2 and CDKN1C in Silver–Russell syndrome patients

Cited by 23 publications

References 12 publications

Paternal Allele of IGF2 Gene Haplotype CTG Is Associated With Fetal and Placental Growth in Japanese

Paternal Allele of IGF2 Gene Haplotype CTG Is Associated With Fetal and Placental Growth in Japanese

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

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