prikaz prve stranice dokumenta Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping
  Download
PDF 20.2 MB
Scientific paper - Case study
Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping
Genes, 15 (2024), 7; 946. https://doi.org/10.3390/genes15070946
Ćuk, Mario; Unal, Busra; Bevanda, Anđela; Hayes, Connor P.; Walker, McKenzie; Abraamyan, Feruza; Belužić, Robert; Crkvenac Gornik, Kristina; Ozretić, David; Prutki, Maja; Nie, Qian; Reddi, Honey V.; Ghazani, Arezou A.

Cite this document

Ćuk, M., Unal, B., Bevanda, A., Hayes, C. P., Walker, M., Abraamyan, F. ... Ghazani, A. A. (2024). Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping. Genes, 15. (7). doi: 10.3390/genes15070946

Ćuk, Mario, et al. "Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping." Genes, vol. 15, no. 7, 2024. https://doi.org/10.3390/genes15070946

Ćuk, Mario, Busra Unal, Anđela Bevanda, Connor P. Hayes, McKenzie Walker, Feruza Abraamyan, Robert Belužić, et al. "Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping." Genes 15, no. 7 (2024). https://doi.org/10.3390/genes15070946

Ćuk, M., et al. (2024) 'Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping', Genes, 15(7). doi: 10.3390/genes15070946

Ćuk M, Unal B, Bevanda A, Hayes CP, Walker M, Abraamyan F, and sur.. Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping. Genes [Internet]. 2024 July 19 [cited 2025 April 04];15(7). doi: 10.3390/genes15070946

M. Ćuk, et al., "Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping", Genes, vol. 15, no. 7, July 2024. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:022423. [Accessed: 04 April 2025]

Please login to the repository to save this object to your list.
Metadata
Title (english)Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping
AuthorMario Ćuk
AuthorBusra Unal
AuthorAnđela Bevanda
AuthorConnor P. Hayes
AuthorMcKenzie Walker
AuthorFeruza Abraamyan
AuthorRobert Belužić
AuthorKristina Crkvenac Gornik
AuthorDavid Ozretić
AuthorMaja Prutki
AuthorQian Nie
AuthorHoney V. Reddi
AuthorArezou A. Ghazani
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
Purpose: An 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). Methods: Trio 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. Results: Results 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. Conclusion: This 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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleGenes
Numberingvol. 15, no. 7, 946
e-ISSN2073-4425
DOIhttps://doi.org/10.3390/genes15070946
URN:NBNurn:nbn:hr:105:022423
Publication2024-07-19
Document URLhttps://www.mdpi.com/2073-4425/15/7/946
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2025-04-04 07:23:55