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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Scientific paper - Original scientific paper
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. & 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, p. 19. https://doi.org/10.1186/s13039-016-0221-4

Rinčić, Martina, Milan Radoš, Željka Krsnik, Kristina Gotovac, Fran Borovečki, Thomas Liehr and 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, p. 19. doi: 10.1186/s13039-016-0221-4

Rinčić M, Radoš M, Krsnik Ž, Gotovac K, Borovečki F, Liehr T, and 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]. 2016 February 20 [cited 2024 April 12];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, p. 19, February 2016. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:054030. [Accessed: 12 April 2024]

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Metadata
Title (english)Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex
AuthorMartina Rinčić
AuthorMilan Radoš
AuthorŽeljka Krsnik
AuthorKristina Gotovac
AuthorFran Borovečki
AuthorThomas Liehr
AuthorLukrecija Brečević
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Abstract (english)
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.
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMolecular Cytogenetics
Numberingvol. 9, p. 19
p-ISSN1755-8166
DOIhttps://doi.org/10.1186/s13039-016-0221-4
URN:NBNurn:nbn:hr:105:054030
Publication2016-02-20
Document URLhttps://doi.org/10.1186/s13039-016-0221-4
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 08:42:04