prikaz prve stranice dokumenta Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex
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Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex
Molecular Cytogenetics, 9 (2016); 19. https://doi.org/10.1186/s13039-016-0221-4
Rinčić, Martina; Radoš, Milan; Krsnik, Željka; Gotovac, Kristina; Borovečki, Fran; Liehr, Thomas; Brečević, Lukrecija

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Rinčić, M., Radoš, M., Krsnik, Ž., Gotovac, K., Borovečki, F., Liehr, T. i Brečević, L. (2016). Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex. Molecular Cytogenetics, 9., 19. doi: 10.1186/s13039-016-0221-4

Rinčić, Martina, et al. "Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex." Molecular Cytogenetics, vol. 9, 2016, str. 19. https://doi.org/10.1186/s13039-016-0221-4

Rinčić, Martina, Milan Radoš, Željka Krsnik, Kristina Gotovac, Fran Borovečki, Thomas Liehr i Lukrecija Brečević. "Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex." Molecular Cytogenetics 9 (2016): 19. https://doi.org/10.1186/s13039-016-0221-4

Rinčić, M., et al. (2016) 'Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex', Molecular Cytogenetics, 9, str. 19. doi: 10.1186/s13039-016-0221-4

Rinčić M, Radoš M, Krsnik Ž, Gotovac K, Borovečki F, Liehr T, i sur.. Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex. Molecular Cytogenetics [Internet]. 20.02.2016. [pristupljeno 18.10.2024.];9:19. doi: 10.1186/s13039-016-0221-4

M. Rinčić, et al., "Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex", Molecular Cytogenetics, vol. 9, str. 19, Veljača 2016. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:054030. [Citirano: 18.10.2024.]

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Naslov (engleski)Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex
AutorMartina Rinčić
AutorMilan Radoš
AutorŽeljka Krsnik
AutorKristina Gotovac
AutorFran Borovečki
AutorThomas Liehr
AutorLukrecija Brečević
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Sažetak (engleski)
BACKGROUND: Van der Woude syndrome (MIM: 119300, VWS) is a dominantly inherited and the most common orofacial clefting syndrome; it accounts for ~2 % of all cleft lip and palate cases. Intellectual disability (ID) is characterized by significant limitations, both in intellectual functioning (cognitive deficit) and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Karyotyping has been the first standard test for the detection of genetic imbalance in patients with ID for more than 35 years. Advances in genetic diagnosis have laid chromosomal microarrays (CMA) as a new standard and first first-line test for diagnosis of patients with ID, as well as other conditions, such as autism spectrum disorders or multiple congenital anomalies. ----- CASE PRESENTATION: The present case was initially studied due to unexplained cognitive deficit. Physical examination at the age of 18 years revealed cleft palate, lower lip pits and hypodontia, accompanied with other dysmorphic features and absence of speech. Brain MRI uncovered significantly reduced overall volume of gray matter and cortical gyrification. Banding cytogenetics revealed an indistinct intrachromosomal rearrangement in the long arm of one chromosome 1, and subsequent microarray analyses identified a 5.56 Mb deletion in 1q32.1-1q32.3, encompassing 52 genes; included were the entire IRF6 gene (whose mutations/deletions underlay VWS) and SRGAP2, a gene with an important role in neuronal migration during development of cerebral cortex. Besides, a duplication in 3q26.32 (1.9 Mb in size) comprising TBL1XR1 gene was identified. Multicolor banding for chromosome 1 and molecular cytogenetics applying a battery of locus-specific probes covering 1q32.1 to 1q44 characterized a four breakpoint-insertional-rearrangement-event, resulting in 1q32.1-1q32.3 deletion. ----- CONCLUSIONS: Considering that the human-specific three-fold segmental duplication of SRGAP2 gene evolutionary corresponds to the beginning of neocortical expansion, we hypothesize that aberrations in SRGAP2 are strong candidates underlying specific brain abnormalities, namely reduced volume of grey matter and reduced gyrification.
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaMolecular Cytogenetics
Brojčani podacivol. 9, str. 19
p-ISSN1755-8166
DOIhttps://doi.org/10.1186/s13039-016-0221-4
URN:NBNurn:nbn:hr:105:054030
Datum objave publikacije2016-02-20
URL dokumentahttps://doi.org/10.1186/s13039-016-0221-4
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-28 08:42:04