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Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers Hasselt University Vrije Universiteit Brussel University of Antwerp

Sebastien JANSSENS DE VAREBEKE, J Moyaert, E Fransen, Britt Bulen, C Neesen, K Devroye, R van de Berg, RJE Pennings, V Topsakal, O Vanderveken, et al.
Introduction: DFNA9 is characterized by adult-onset hearing loss and evolution toward bilateral vestibulopathy (BVP). The genotype-phenotype correlation studies were conducted 15 years ago. However, their conclusions were mainly based on symptomatic carriers and the vestibular data exclusively derived from the horizontal (lateral) semicircular canal (SCC). The last decade was marked by the emergence of new clinical diagnostic tools, such as the ...

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation KU Leuven Ghent University

Eric Legius, Ludwine Messiaen
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients ...

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Vrije Universiteit Brussel University of Antwerp

Sebastien P F JanssensdeVarebeke, Julie Moyaert, Erik Fransen, Britt Bulen, Celine Neesen, Katrien Devroye, Vedat Topsakal, Olivier M Vanderveken

INTRODUCTION: DFNA9 is characterized by adult-onset progressive sensorineural hearing loss (SNHL) and vestibular impairment. More than 15 years ago, genotype-phenotype correlation studies estimated the initial age of hearing deterioration in the fourth to fifth decade (ranging from 32 to 43 years). However, these analyses were based on relatively limited numbers of mainly symptomatic carriers using markedly different methodologies. The ...

Genotype-phenotype correlation for DFNA22 Vrije Universiteit Brussel University of Antwerp

Vedat Topsakal, Nele Hilgert, Joost van Dinther, Lisbeth Tranebjaerg, Nanna D Rendtorff, Andrzej Zarowski, Erwin Offeciers, Guy Van Camp, Paul Van De Heyning

Clinical and audiological examination was done in 2 Belgian families with autosomal dominant sensorineural hearing loss (SNHL) linked to DFNA22. Nineteen subjects in family 1 had mild to moderate SNHL starting in the third decade. The hearing loss was characterized by a flat audiogram affecting all tested frequencies with statistically significant progression. In family 2 eleven subjects were affected with mild to moderate SNHL starting in ...

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Vrije Universiteit Brussel

K.p. Hoornaert, I. Vereecke, C. Dewinter, T. Rosenberg, F.a. Beemer, J.g. Leroy, L. Bendix, E. Björck, Maryse Bonduelle, O. Boute, et al.
Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1 gene was analyzed by either a mutation scanning technique or ...

IFIH1 gene polymorphism in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population. Vrije Universiteit Brussel

Folefac Aminkeng, Jan Van Autreve, Ilse Weets, Erik Quartier, Christiaan Van Schravendijk, Frans Gorus, Bart Van der Auwera
The evaluation of susceptibility loci in a registry-based setting could be an important addition to the current predictive and screening models in T1D. Therefore, the aim of this study was to evaluate the importance of one of these loci, IFIH1. T1D patients (n=1981), control subjects (n=2092) and 430 families were genotyped for HLA-DQ and IFIH1 nsSNP rs1990760 (Ala946Thr). In the association analysis, the allelic frequencies, A (62.4% vs. 61.3%) ...

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study KU Leuven University of Antwerp

Wim Robberecht
Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal alpha-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA synthetase (GARS), dynactin 1 (DCTN1), small heat shock 27 kDa protein 1 (HSPB1), small heat shock 22 kDa protein 8 (HSPB8), Berardinelli-Seip congenital lipodystrophy (BSCL2) and senataxin ...