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Article

Assessing non-Mendelian inheritance in inherited axonopathies.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2020

Bis-Brewer Dana M, Gan-Or Ziv, Sleiman Patrick, Hakonarson Hakon, Fazal Sarah, Courel Steve, Cintra Vivian, Tao Feifei, Estiar Mehrdad A, Tarnopolsky Mark, Boycott Kym M, Yoon Grace, Suchowersky Oksana, Dupré Nicolas, Cheng Andrew, Lloyd Thomas E, Rouleau Guy, Schüle Rebecca, Züchner Stephan

Abstract excerpt

PURPOSE: Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia [HSP]) and peripheral (Charcot-Marie-Tooth type 2 [CMT2]) nervous systems. Mendelian high-penetrance alleles in over 100 different genes have been shown to cause IA; however, about 50% of IA cases do not receive a...

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Identifiers

PMID: 32741968
DOI: 10.1038/s41436-020-0924-0
PMCID: PMC7710562

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