Evidence map›Paper›PMID 41896969›Full record

ReviewOrphanet journal of rare diseases2026

Novel compound heterozygous FAM20C variants cause Raine syndrome - retrospective prenatal diagnosis and literature review.

Ewelina Lazarczyk, Maria Pilarska-Deltow, Anna Sowinska-Seidler, Anna Repczynska, Malgorzata Drozniewska, Aleksander Jamsheer, Agata Zdrojewska, Magdalena Pasinska, Olga Haus

Abstract readReviewCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Review in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Ewelina LazarczykDepartment of Clinical Genetics, Faculty of Medicine, Collegium Medicum, Bydgoszcz, Nicolaus Copernicus University, Torun, Poland. elazarczyk@poczta.onet.pl.ORCID http://orcid.org/0000-0002-6338-6874
Maria Pilarska-DeltowDepartment of Clinical Genetics, Faculty of Medicine, Collegium Medicum, Bydgoszcz, Nicolaus Copernicus University, Torun, Poland.
Anna Sowinska-SeidlerDepartment of Medical Genetics, Collegium Biologicum, Medical University, Poznan, Poland.
Anna RepczynskaDepartment of Clinical Genetics, Faculty of Medicine, Collegium Medicum, Bydgoszcz, Nicolaus Copernicus University, Torun, Poland.
Malgorzata DrozniewskaSynnovis Analytics LPP, Guy's Hospital, London, UK.
Aleksander JamsheerDepartment of Medical Genetics, Collegium Biologicum, Medical University, Poznan, Poland.
Agata ZdrojewskaNeonatology Clinic of the University Hospital, No. 2, Bydgoszcz, Poland.
Magdalena PasinskaDepartment of Clinical Genetics, Faculty of Medicine, Collegium Medicum, Bydgoszcz, Nicolaus Copernicus University, Torun, Poland.
Olga HausDepartment of Clinical Genetics, Faculty of Medicine, Collegium Medicum, Bydgoszcz, Nicolaus Copernicus University, Torun, Poland.

Funding

Uniwersytet Mikolaja Kopernika w Toruniu IND.WL.16.2021
6 · The paper itself

Abstract

backgroundRaine syndrome, RS, (OMIM 259775) is a rare autosomal recessive disorder with prevalence of less than 1:1 000 000, caused by homozygous or compound heterozygous variants in FAM20C gene. A retrospective genetic investigation was performed on DNA extracted from amniotic cell cultures previously used for cytogenetic studies.

methodsExtracted DNA was used for aCGH (array comparative genomic hybridization) and Sanger sequencing. Parental blood samples were tested for karyotype (GTG – G-banding using trypsin and Giemsa) and molecular karyotype (aCGH). Additionally, paternal sample was tested by NGS (next generation sequencing).

resultsWe present two fetal cases of Raine syndrome. Both were compound heterozygotes for two FAM20C gene variants: a maternally-inherited copy-number loss encompassing exons 1-3 (arr[GRCh37] 7p22.3(170366_229852)x1) and a paternally-inherited novel frameshift exon 1 variant [NM_020223.4:c.307_308dupTC p.(Ser104ArgfsTer27)].

conclusionPrenatal phenotype associated with Raine syndrome often includes characteristic pattern of intracranial calcification, osteosclerosis and facial dysmorphism. However, in majority of cases, diagnosis is made postnatally. It is therefore important to report all cases of Raine syndrome for which USS (ultrasound scan) findings are available – this will enable better understanding and detection of RS prenatally.

Indexed as

Abnormalities, MultipleCasein Kinase ICleft PalateExophthalmosExtracellular Matrix ProteinsMicrocephalyOsteosclerosisPrenatal DiagnosisComparative Genomic HybridizationFemaleHeterozygoteHumansPregnancyRetrospective StudiesCasein Kinase IExtracellular Matrix ProteinsFAM20C protein, humanArray comparative genomic hybridization (aCGH)Prenatal diagnosisRaine syndrome

Identifiers

PMID41896969
PMCPMC13094159

What Socratic holds

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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 Socratic graph.