Novel clinical and genetic insights into dysfunction of the ASC-1 complex

Marais, Anett; et al.

Publications about genetic testing for neurological disorders

Novel clinical and genetic insights into dysfunction of the ASC-1 complex

Anett Marais ¹ et al.

¹ CENTOGENE AG

October 16, 2018

These findings were presented at the ASHG 2018.

ASC-1 complex mutations in severe neuromuscular disorders

The transcriptional coactivator ASC-1 complex is composed of four subunits ASC-1 (TRIP4), ASCC1 (ASCC1), ASCC2 (ASCC2) and ASCC3 (ASCC 3). Homozygous variants in TRIP4 (n=4 families) and in ASCC1 (n=4 families) were recently associated with Spinal muscular atrophy with congenital bone fractures 1 and 2. We present new findings in support of ASC-1 complex-related disease:

Identification of novel TRIP4 and ASCC1 variants
Description of four new families with ASC-1 neuromuscular disease
Disease severity in correlation with mutated subunits and transcriptional consequences

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Topic

Neurology

Genetic testing for neurological disorders
SMN-negative spinal muscular atrophy panel

Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. The onset...

References:

Knierim E et al., 2016, Am J Hum Genet., 98(3):473-489
Davignon L et al., 2016, Hum Mol Genet., 25(8):1559-73
Oliveira J et al., 2017, Clinical Genetics, 92(4):434-439
Shamseldin HE et al., 2018, Genet Med., 20(4):420-427

Disclosure of conflict of interest:

This study was supported in part by CENTOGENE AG, Rostcok. AM, AMB, CB, MCC, ZY, KKK, OP, MW, AR and PB are or have been employees of CENTOGENE AG, Rostock, Germany.