English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Open

Charcot–Marie–Tooth disease ( CMT ) is a heterogeneous inherited neuropathy. The number of known  CMT  genes is rapidly increasing mainly due to next‐generation sequencing technology, at present more than 70  CMT ‐associated genes are known. We investigated whether variants in the   DCTN 2  could cause  CMT .    Material and methods  Fifty‐nine Norwegian  CMT  families from the general population with unknown genotype were tested by targeted next‐generation sequencing ( NGS ) for variants in   DCTN 2  along with 32  CMT  genes and 19 other genes causing other inherited neuropathies or neuronopathies, due to phenotypic overlap. In the family with the   DCTN 2  variant, exome sequencing was then carried out on all available eight family members to rule out the presence of more potential variants.    Results  Targeted  NGS  identified in one family a variant of   DCTN 2 , c.337C>T, segregating with the phenotype in five affected members, while it was not present in the three unaffected members. The   DCTN 2  variant c.337C>T; p.(His113Tyr) was neither found in in‐house controls nor in  SNP  databases. Exome sequencing revealed a singular heterozygous shared haplotype containing four genes,   DCTN 2 ,   DNAH 10 ,   LRIG 3,  and   MYO 1A , with novel sequence variants. The haplotype was shared by all the affected members, while the unaffected members did not have it.    Conclusions  This is the first time a haplotype on chromosome 12 containing sequence variants in the genes   DCTN 2 ,   DNAH 10 ,   LRIG 3,  and   MYO 1A  has been linked to an inherited neuropathy in humans.

acta neurologica scandinavica

Variants in the genes   DCTN 2 ,   DNAH 10 ,   LRIG 3,  and   MYO 1A  are associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family