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

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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, br. 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, br. 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, i sur.. Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping. Genes [Internet]. 19.07.2024. [pristupljeno 04.04.2025.];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, br. 7, Srpanj 2024. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:022423. [Citirano: 04.04.2025.]

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Podaci o radu
Naslov (engleski)Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping
AutorMario Ćuk
AutorBusra Unal
AutorAnđela Bevanda
AutorConnor P. Hayes
AutorMcKenzie Walker
AutorFeruza Abraamyan
AutorRobert Belužić
AutorKristina Crkvenac Gornik
AutorDavid Ozretić
AutorMaja Prutki
AutorQian Nie
AutorHoney V. Reddi
AutorArezou A. Ghazani
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaGenes
Brojčani podacivol. 15, br. 7, 946
e-ISSN2073-4425
DOIhttps://doi.org/10.3390/genes15070946
URN:NBNurn:nbn:hr:105:022423
Datum objave publikacije2024-07-19
URL dokumentahttps://www.mdpi.com/2073-4425/15/7/946
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2025-04-04 07:23:55