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  11. Diagnosis Of Two Unrelated Syndromes Of Prader-willi And Calpainopathy: Insight From Trio Whole Genome Analysis And Isodisomy Mapping

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

Mario Cuk1, Busra Unal2, Andjela Bevanda3

  • 1Department of Pediatrics, School of Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.

Genes
|July 27, 2024

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View abstract on PubMed

Summary
This summary is machine-generated.

This study reports the first case of co-occurring Prader-Willi syndrome (PWS) and calpainopathy, identified through whole genome sequencing. Maternal uniparental disomy of chromosome 15 was found, revealing the genetic cause of both disorders in the patient.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Genetics

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder.
  • Muscular dystrophies are a group of inherited muscle-wasting diseases.
  • Investigating co-occurring genetic disorders requires advanced genomic analysis.

Purpose of the Study:

  • To investigate the co-occurrence of PWS and muscular dystrophy in a single patient.
  • To identify the genetic etiology using whole genome sequencing (WGS).
  • To understand the molecular basis of complex phenotypes.

Main Methods:

  • Trio whole genome sequencing (WGS) joint analysis was performed.
  • The proband presented with PWS, hypotonia, hyperCKemia, and early-onset obesity.
  • Parents were clinically unaffected.
Keywords:
Prader-Willi syndromecalpainopathyheterodisomyisodisomy

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Main Results:

  • Maternal isodisomy and heterodisomy of chromosome 15 were identified.
  • The PWS critical region (15q11.2-15q13) was affected by maternal isodisomy.
  • A homozygous pathogenic variant in CAPN3 (calpainopathy) was found due to maternal isodisomy.

Conclusions:

  • This is the first report of concurrent PWS and calpainopathy.
  • Highlights the utility of joint WGS analysis in complex cases.
  • Emphasizes assessing autosomal recessive diseases in isodisomic regions.
joint WGS analysis
uniparental disomy