Publications

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Refinement of cortical dysgenesis associated with TUBA1A mutations: perisylvain pachygyria and dysgenesis of the internal capsule are specific features of the TUBA1A lissencephaly spectrum KU Leuven

Hilde Van Esch, Lieven Lagae, Gunnar Buyse
OBJECTIVE: We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the range of these abnormalities, we searched for additional mutations in a cohort of 100 patients with lissencephaly spectrum for whom no mutation was identified in DCX, LIS1 and ARX genes and compared these data to five previously described patients with TUBA1A mutations. RESULTS: We ...

The location of DCX mutations predicts malformation severity in X-linked lissencephaly KU Leuven

Hilde Van Esch
Lissencephaly spectrum (LIS) is one of the most severe neuronal migration disorders that ranges from agyria/pachygyria to subcortical band heterotopia. Approximately 80% of patients with the LIS spectrum carry mutations in either the LIS1 or DCX (doublecortin) genes which have an opposite gradient of severity. The aim of the study was to evaluate in detail the phenotype of DCX-associated lissencephaly and to look for genotype-phenotype ...

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly KU Leuven

Meng-Han Tsai, Alison M Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E Porter, Laura A Jansen, et al.
Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate CEP85L as an important cause of ...

TUBA1A mutations University of Antwerp KU Leuven Vrije Universiteit Brussel

Anna Jansen, A. Oostra, B. Desprechins, Y. De Vlaeminck, H. Verhelst, L. Regal, P. Verloo, N. Bockaert, K. Keymolen, S. Seneca, et al.
Background: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. Methods: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A. Results: Two novel heterozygous missense mutations in TUBA1A were identified: c. 629A > G (p. Tyr210Cys) occurring de novo in a boy with lissencephaly, and c. 13A > C ...

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance Vrije Universiteit Brussel

William B Dobyns, Kimberly A Aldinger, Gisele E Ishak, Ghayda M Mirzaa, Andrew E Timms, Megan E Grout, Marjolein H G Dremmen, Rachel Schot, Laura Vandervore, Marjon A van Slegtenhorst, et al.

To date, mutations in 15 actin- or microtubule-associated genes have been associated with the cortical malformation lissencephaly and variable brainstem hypoplasia. During a multicenter review, we recognized a rare lissencephaly variant with a complex brainstem malformation in three unrelated children. We searched our large brain-malformation databases and found another five children with this malformation (as well as one with a less severe ...

A case of epigastric heteropagus twinning with other congenital abnormalities in a Chihuahua puppy Ghent University

J House, KR Barrand, Pieter Cornillie
A two-year-old Chihuahua was presented on day 58 of pregnancy due to very marked abdominal distension. A cesarean section was performed and five normal and one clearly abnormal puppy were delivered. Examination of the abnormal puppy revealed a combination of congenital anomalies including epigastric heteropagus twinning. The autosite showed focal cranial aplasia cutis, anasarca, lissencephaly, palatoschisis, sternal agenesis and eventeratio ...

Genotype-phenotype correlations in malformations of cortical development (MCD) Vrije Universiteit Brussel

Stefanie Brock
The development of the human cerebral cortex requires precise regulation of
three major processes. These include the proliferation of neuronal progenitor
cells, neuronal migration from the ventricular zone to the future cortex and postmigrational organization of mature neurons into neuronal circuits. Malformations of cortical development (MCD) compromise a broad spectrum of disorders caused by acquired or genetic disturbances in either ...

Neuropathology of genetically defined malformations of cortical development University of Antwerp Vrije Universiteit Brussel

Stefanie Brock, F Cools, Anna Jansen
Aims Malformations of cortical development (MCD) include a heterogeneous spectrum of clinical, imaging, molecular and histopathological entities. While the understanding of genetic causes of MCD has improved with the availability of next-generation sequencing modalities, genotype-histopathological correlations remain limited. This is the first systematic review of molecular and neuropathological findings in patients with MCD to provide a ...

Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: international multicenter study KU Leuven

Christoph Lees
OBJECTIVES: To assess the role of fetal magnetic resonance imaging (MRI) in detecting associated anomalies in fetuses presenting with mild or moderate isolated ventriculomegaly (VM) undergoing multiplanar ultrasound evaluation of the fetal brain. METHODS: This was a multicenter, retrospective, cohort study involving 15 referral fetal medicine centers in Italy, the UK and Spain. Inclusion criteria were fetuses affected by isolated mild ...