Selected Publication:

SHR Neuro Cancer Cardio Lipid Metab Microb

Schabhüttl, M; Wieland, T; Senderek, J; Baets, J; Timmerman, V; De Jonghe, P; Reilly, MM; Stieglbauer, K; Laich, E; Windhager, R; Erwa, W; Trajanoski, S; Strom, TM; Auer-Grumbach, M.
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
J Neurol. 2014; 261(5):970-982 Doi: 10.1007/s00415-014-7289-8
Web of Science PubMed FullText FullText_MUG

 

Leading authors Med Uni Graz

Schabhüttl Maria

Co-authors Med Uni Graz

Erwa Wolfgang

Trajanoski Slave

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Abstract:

Inherited peripheral neuropathies (IPN) are one of the most frequent inherited causes of neurological disability characterized by considerable phenotypic and genetic heterogeneity. Based on clinical and electrophysiological properties, they can be subdivided into three main groups: HMSN, dHMN, and HSN. At present, more than 50 IPN genes have been identified. Still, many patients and families with IPN have not yet received a molecular genetic diagnosis because clinical genetic testing usually only covers a subset of IPN genes. Moreover, a considerable proportion of IPN genes has to be identified. Here we present results of WES in 27 IPN patients excluded for mutations in many known IPN genes. Eight of the patients received a definite diagnosis. While six of these patients carried bona fide pathogenic mutations in known IPN genes, two patients had mutations in genes known to be involved in other types of neuromuscular disorders. A further group of eight patients carried sequence variations in IPN genes that could not unequivocally be classified as pathogenic. In addition, combining data of WES and linkage analysis identified SH3BP4, ITPR3, and KLHL13 as novel IPN candidate genes. Moreover, there was evidence that particular mutations in PEX12, a gene known to cause Zellweger syndrome, could also lead to an IPN phenotype. We show that WES is a useful tool for diagnosing IPN and we suggest an expanded phenotypic spectrum of some genes involved in other neuromuscular and neurodegenerative disorders. Nevertheless, interpretation of variants in known and potential novel disease genes has remained challenging.

Find related publications in this database (using NLM MeSH Indexing)

Adult -

Child -

Child, Preschool -

Exome - genetics

Female -

Genetic Variation - genetics

Humans -

Male -

Middle Aged -

Peripheral Nervous System Diseases - diagnosis Peripheral Nervous System Diseases - genetics

Sequence Analysis, DNA - methods

Treatment Outcome -

Young Adult -

Find related publications in this database (Keywords)

IPN

CMT

dHMN

HMSN

WES

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