Hereditary neuropathy NOT PMP22 copy numberGene: DHX9
Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available.
Created: 25 Mar 2021, 11:46 a.m. | Last Modified: 25 Mar 2021, 11:46 a.m.
Panel Version: 1.25
Conference poster (Genomics of Rare Disease 2021) - 'DExH-box helicase 9 (DHX9) is a candidate hereditary axonal neuropathy gene' by Fatih et al, Baylor College of Medicine -
Report three unrelated individuals with adult-onset axonal neuropathy (age of onset: 41, 49, and 12 years old, respectively). Clinical features include limb weakness (3), muscle atrophy (2), diminished sensation in feet (2; plus in hands in 1 individual), ataxic gait (1), and painful neuropathy (1). All subjects exhibited neurogenic changes on EMG, and 2 cases also had normal or absent motor and sensory NCV.
Exome sequencing revealed distinct heterozygous variants in the DHX9 gene ([c.2537A>G, p.Asp846Gly]; [c.2510G>C, p.Arg837Thr]; [c.3763G>A, p.Ala1255Thr]). Segregation data was only available for one case, showing de novo occurrence. No functional data presented.
These variants have to be validated and currently DHX9 is deemed a candidate gene. No other publications in relation to this gene and phenotype are available in PubMed at this time.
Baylor College of Medicine POC: Dr. Daniel Calame, [email protected]
Created: 25 Mar 2021, 11:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult-onset axonal neuropathy
Gene: dhx9 has been classified as Red List (Low Evidence).
gene: DHX9 was added gene: DHX9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Other watchlist tags were added to gene: DHX9. Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHX9 were set to Adult-onset axonal neuropathy