Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex View Full Text


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Article Info

DATE

2016-12

AUTHORS

Martina Rincic, Milan Rados, Zeljka Krsnik, Kristina Gotovac, Fran Borovecki, Thomas Liehr, Lukrecija Brecevic

ABSTRACT

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. More... »

PAGES

19

References to SciGraph publications

  • 1998. Automatic quantification of MS lesions in 3D MRI brain data sets: Validation of INSECT in MEDICAL IMAGE COMPUTING AND COMPUTER-ASSISTED INTERVENTION — MICCAI’98
  • 2010-12. The genetic basis of non-syndromic intellectual disability: a review in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2003-12-01. Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion in JOURNAL OF HUMAN GENETICS
  • 2010-09. Cytogenetic, Molecular-Cytogenetic, and Clinical-Genealogical Studies of the Mothers of Children with Autism: A Search for Familial Genetic Markers for Autistic Disorders in NEUROSCIENCE AND BEHAVIORAL PHYSIOLOGY
  • 2007-07. Variability in the heterochromatin regions of the chromosomes and chromosomal anomalies in children with autism: Identification of genetic markers of autistic spectrum disorders in NEUROSCIENCE AND BEHAVIORAL PHYSIOLOGY
  • 2007-04. Cognitive dysfunction in adults with Van der Woude syndrome in GENETICS IN MEDICINE
  • 2011-10. Spatio-temporal transcriptome of the human brain in NATURE
  • 2002-10. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes in NATURE GENETICS
  • 2013-12. De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus in MOLECULAR CYTOGENETICS
  • 2002-02. Structural brain abnormalities in adult males with clefts of the lip and/or palate in GENETICS IN MEDICINE
  • 2014-10. A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation in JOURNAL OF HUMAN GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13039-016-0221-4

    DOI

    http://dx.doi.org/10.1186/s13039-016-0221-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1011904898

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26900403


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