Evidence map›Paper›PMID 39062725›Full record

ArticleGenes2024

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.

Mario Cuk, Busra Unal, Andjela Bevanda, Connor P Hayes, McKenzie Walker, Feruza Abraamyan, Robert Beluzic, Kristina Crkvenac Gornik, David Ozretic, Maja Prutki and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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

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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

1 citing paper in PubMed.

  1. Novel Variant inGenes · 2024
    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

13 authors.

Mario CukDepartment of Pediatrics, School of Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.ORCID 0000-0002-7119-133X
Busra UnalDivision of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.ORCID 0000-0002-2056-2604
Andjela BevandaZagreb County Health Center, 10000 Zagreb, Croatia.ORCID 0009-0001-6304-9376
Connor P HayesDivision of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.
McKenzie WalkerDivision of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.
Feruza AbraamyanDivision of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.
Robert BeluzicDivision of Molecular Medicine, Rudjer Boskovic Institute, 10000 Zagreb, Croatia.
Kristina Crkvenac GornikDepartment of Laboratory Diagnostics, Division of Cytogenetics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.
David OzreticDepartment for Diagnostic and Interventional Neuroradiology, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.
Maja PrutkiDepartment of Radiology, School of Medicine, University Hospital Center Zagreb, 10000 Zagreb, Croatia.
Qian NiePrecision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Honey V ReddiPrecision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Arezou A GhazaniDivision of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.ORCID 0000-0002-4439-8554

Funding

Mila Za Sve Foundation Mila Za Sve Foundation
6 · The paper itself

Abstract

purposeAn investigation for the co-occurrence of two unrelated genetic disorders of muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM#176270) using joint whole genome sequencing (WGS).

methodsTrio WGS joint analysis was performed to investigate the genetic etiology in a proband with PWS, prolonged muscular hypotonia associated hyperCKemia, and early-onset obesity. The parents were unaffected.

resultsResults showed maternal isodisomy uniparental disomy (UPD) in chromosome 15, expanding from 15q11.2 to 15q22.2, including PWS regions at 15q11.2-15q13. Maternal heterodisomy was detected from 15q22.2 to 15q26.3. A pathogenic variant, NM_000070.3(CAPN3):c.550del (p.Thr184fs), was identified at 15q15.1 in a heterozygous state in the mother that was homozygous in the proband due to maternal isodisomy.

conclusionThis is the first study of the concurrent molecular etiology of PWS and calpainopathy (OMIM#253600) in the same patient. This report highlights the utility of joint analysis and the need for the assessment of autosomal recessive disease in regions of isodisomy in patients with complex and unexplained phenotypes.

Indexed as

CalpainChromosomes, Human, Pair 15Prader-Willi SyndromeUniparental DisomyHumansMuscle ProteinsWhole Genome SequencingCalpainCAPN3 protein, humanMuscle Proteinscalpainopathyheterodisomyisodisomyjoint WGS analysisPrader-Willi syndromeuniparental disomy

Identifiers

PMID39062725
PMCPMC11276144

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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.