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Scientific paper - Original scientific paper
Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
American Journal of Human Genetics, 87 (2010), 2; 189-198. https://doi.org/10.1016/j.ajhg.2010.07.001
Malan, Valeri; Rajan, Diana; Thomas, Sophie; Shaw, Adam C.; Picard, Helene Louis; Layet, Valerie; Till, Marianne; van Haeringen, Arie; Mortier, Geert; Nampoothiri, Sheela; Pušeljić, Silvija

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Malan, V., Rajan, D., Thomas, S., Shaw, A. C., Picard, H. L., Layet, V. ... Pušeljić, S. (2010). Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome. American Journal of Human Genetics, 87. (2), 189-198. doi: 10.1016/j.ajhg.2010.07.001

Malan, Valeri, et al. "Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome." American Journal of Human Genetics, vol. 87, no. 2, 2010, pp. 189-198. https://doi.org/10.1016/j.ajhg.2010.07.001

Malan, Valeri, Diana Rajan, Sophie Thomas, Adam C. Shaw, Helene Louis Picard, Valerie Layet, Marianne Till, et al. "Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome." American Journal of Human Genetics 87, no. 2 (2010): 189-198. https://doi.org/10.1016/j.ajhg.2010.07.001

Malan, V., et al. (2010) 'Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome', American Journal of Human Genetics, 87(2), pp. 189-198. doi: 10.1016/j.ajhg.2010.07.001

Malan V, Rajan D, Thomas S, Shaw AC, Picard HL, Layet V, and sur.. Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome. American Journal of Human Genetics [Internet]. 2010 [cited 2024 November 17];87(2):189-198. doi: 10.1016/j.ajhg.2010.07.001

V. Malan, et al., "Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome", American Journal of Human Genetics, vol. 87, no. 2, pp. 189-198, 2010. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:239:730296. [Accessed: 17 November 2024]

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Metadata
Title (english)Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
AuthorValeri Malan
AuthorDiana Rajan
AuthorSophie Thomas
AuthorAdam C. Shaw
AuthorHelene Louis Picard
AuthorValerie Layet
AuthorMarianne Till
AuthorArie van Haeringen
AuthorGeert Mortier
AuthorSheela Nampoothiri
AuthorSilvija Pušeljić
MBZ: 263190
Author's institution(Clinical hospital center Osijek)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Pharmacology
Abstract (english)
By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies. Distinct frameshift and splice NFIX mutations that escaped nonsense-mediated mRNA decay (NMD) were identified in nine MSS subjects. NFIX belongs to the Nuclear factor one (NFI) family of transcription factors, but its specific function is presently unknown. We demonstrate that NFIX is normally expressed prenatally during human brain development and skeletogenesis. These findings demonstrate that allelic NFIX mutations trigger distinct phenotypes, depending specifically on their impact on NMD.
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleAmerican Journal of Human Genetics
Numberingvol. 87, no. 2, pp. 189-198
p-ISSN0002-9297
e-ISSN1537-6605
DOIhttps://doi.org/10.1016/j.ajhg.2010.07.001
URN:NBNurn:nbn:hr:239:730296
Publication2010
Document URLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917711/
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2020-03-30 10:02:01