prikaz prve stranice dokumenta Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome
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Scientific paper - Letter
Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome
Clinical Genetics, 106 (2024), 6; 786-787. https://doi.org/10.1111/cge.14623
Hrvatin, Nenad; Pereza, Nina; Čaljkušić‐Mance, Tea; Vučerić, Tamara Mišljenović; Ostojić, Saša; Hodžić, Alenka; Maver, Aleš; Peterlin, Borut

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Hrvatin, N., Pereza, N., Čaljkušić‐Mance, T., Vučerić, T. M., Ostojić, S., Hodžić, A. ... Peterlin, B. (2024). Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome. Clinical Genetics, 106. (6), 786-787. doi: 10.1111/cge.14623

Hrvatin, Nenad, et al. "Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome." Clinical Genetics, vol. 106, no. 6, 2024, pp. 786-787. https://doi.org/10.1111/cge.14623

Hrvatin, Nenad, Nina Pereza, Tea Čaljkušić‐Mance, Tamara Mišljenović Vučerić, Saša Ostojić, Alenka Hodžić, Aleš Maver and Borut Peterlin. "Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome." Clinical Genetics 106, no. 6 (2024): 786-787. https://doi.org/10.1111/cge.14623

Hrvatin, N., et al. (2024) 'Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome', Clinical Genetics, 106(6), pp. 786-787. doi: 10.1111/cge.14623

Hrvatin N, Pereza N, Čaljkušić‐Mance T, Vučerić TM, Ostojić S, Hodžić A, and sur.. Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome. Clinical Genetics [Internet]. 2024 September 30 [cited 2024 December 20];106(6):786-787. doi: 10.1111/cge.14623

N. Hrvatin, et al., "Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome", Clinical Genetics, vol. 106, no. 6, pp. 786-787, September 2024. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:720913. [Accessed: 20 December 2024]

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Title (english)Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome
AuthorNenad Hrvatin
AuthorNina Pereza
AuthorTea Čaljkušić‐Mance
AuthorTamara Mišljenović Vučerić
AuthorSaša Ostojić
AuthorAlenka Hodžić
AuthorAleš Maver
AuthorBorut Peterlin
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Ophthalmology
Abstract (english)
ABSTRACT Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disease characterized by developmental delay, intellectual disability, and optic atrophy with a variable expression of other clinical features (dysmorphic features, autistic behaviour, corpus callosum hypoplasia and seizures). To date, approximately a hundred cases of the syndrome have been described, with an estimated prevalence of 1 in 100 000–250 000. BBSOAS is caused by the loss of function of the NR2F1 gene (nuclear receptor subfamily 2 group F member 1), which encodes the COUP‐TFI (Chicken ovalbumin upstream promotor‐transcription factor 1). COUP‐TFI functions as a homodimer and is one of the major transcriptional regulators directing cortical arealization, cell differentiation and maturation. Most cases of BBSOAS occur de novo, and one case was previously described in which the disease resulted from gonadal mosaicism. In the present case, we report two sisters with BBSOAS, a novel nonsense mutation in the NR2F1 gene and potential gonadal mosaicism as the cause of this rare disease, making it the second such case described in the literature.
Keywords (english)
Languageenglish
Publication typeScientific paper - Letter
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleClinical Genetics
Numberingvol. 106, no. 6, pp. 786-787
p-ISSN0009-9163
e-ISSN1399-0004
DOIhttps://doi.org/10.1111/cge.14623
URN:NBNurn:nbn:hr:184:720913
Publication2024-09-30
Document URLhttps://onlinelibrary.wiley.com/doi/10.1111/cge.14623
Type of resourceText
Access conditionsInstitutional access
Terms of useLicence In copyright icon
Created on2024-12-18 09:53:37