Ataxia - paediatric
Gene: RFXANK
PMID: 33855173 - 1 family (2 affecteds, 3rd not sequenced) with a homozygous c.271+1G>C splice variant, late-onset immunodeficiency and subacute progressive neurodegenerative disease, including cognition, motor, visual and cerebellar features. MRI demonstrated global cerebral and cerebellar atrophy.
PMID: 23314770 - 1/34 MHCII deficient patients with biallelic variants reported with ataxia. Majority of patients (including patient with ataxia) share a founder variant (c.338-25_338del26).
PMID: 28676232 - single 30 month old patient with ataxic gait and dysarthria and a homozygous PTC.
Summary: 3 patients but uncommon feature, variable expressivity
Sources: LiteratureCreated: 4 Oct 2021, 4:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive Ataxia and Neurologic Regression; MHC class II deficiency, complementation group B MIM#209920
Publications
7 different RFXANK variants have been reported in 26 unrelated individuals; two mouse models
Homozygous and compound heterozygous variants (deletion, missense, nonsense or splice-site) reported.
The most frequent variant is a 26-bp deletion (752delG-25) which was reported in 21 individuals
* Founder effect for this deletion variant has been demonstrated (North African origin)
In all cases, the clinical presentation included early onset recurrent infections, severe diarrhoea and failure to thrive.Created: 10 Aug 2021, 6:02 a.m. | Last Modified: 10 Aug 2021, 6:02 a.m.
Panel Version: 0.8713
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MHC class II deficiency, complementation group B MIM# 209920; Bare Lymphocyte Syndrome, type II, complementation group B; Low CD4+ T cells; reduced MHC II expression on lymphocytes; Normal-low Ig levels; Failure to thrive; respiratory/gastrointestinal infections; liver/biliary tract disease; diarrhoea; Severe autoimmune cytopaenia; agammaglobulinaemia
Publications
Gene: rfxank has been classified as Amber List (Moderate Evidence).
Gene: rfxank has been classified as Amber List (Moderate Evidence).
gene: RFXANK was added gene: RFXANK was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFXANK were set to PMID: 33855173; 23314770; 28676232 Phenotypes for gene: RFXANK were set to Progressive Ataxia and Neurologic Regression; MHC class II deficiency, complementation group B MIM#209920 Review for gene: RFXANK was set to AMBER