Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review.

Kaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, Masayo Kagami, Tsutomu Ogata

Abstract readCase ReportsReview

In one paragraph

Review in Clinical epigenetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.Clinical epigenetics · 2025
Article

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Kaori YamotoDepartment of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan.

Hirotomo SaitsuDepartment of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan.

Yumiko OhkuboDepartment of Pediatrics, Shizuoka Saiseikai Hospital, Shizuoka, Japan.

Masayo KagamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Tsutomu OgataDepartment of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan. tomogata@hama-med.ac.jp.ORCID http://orcid.org/0000-0001-7178-9991

Funding

Grant from National Center for Child Health and Development 2022B-5Japan Agency for Medical Research and Development (AMED) JP24ek0109587 and JP24ek0109760Japan Society for the Promotion of Science JP23K15446

6 · The paper itself

Abstract

Silver-Russell syndrome (SRS) is a representative imprinting disorder characterized by pre- and postnatal growth failure. We encountered two Japanese SRS cases with a de novo pathogenic frameshift variant of HMGA2 (NM_003483.6:c.138_141delinsCT, p.(Lys46Asnfs*16)) and a de novo ~ 3.4 Mb microdeletion at 12q14.2-q15 involving HMGA2, respectively. Furthermore, we compared clinical features in previously reported patients with various genetic conditions leading to compromised IGF2 expression, i.e., HMGA2 aberrations, PLAG1 aberrations, IGF2 aberrations, and H19/IGF2:IG-DMR epimutations (hypomethylations). The results provide further support for HMGA2 being involved in the development of SRS and imply some characteristic features in patients with HMGA2 aberrations.

Indexed as

HMGA2 ProteinSilver-Russell SyndromeChromosomes, Human, Pair 12DNA MethylationFemaleFrameshift MutationGenomic ImprintingHumansInfantInsulin-Like Growth Factor IIJapanMaleHMGA2 ProteinHMGA2 protein, humanIGF2 protein, humanInsulin-Like Growth Factor II12q14 microdeletionHMGA2IGF2Silver–Russell syndromeWhole exome sequencing

Identifiers

PMID38840187

DOI10.1186/s13148-024-01688-w

PMCPMC11155105

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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.