ArticleJournal of human genetics2017
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 10 citations in OpenAlex.
- Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities.Molecular cytogenetics · 2022Article
- First report of paternal uniparental disomy of chromosome 8 withFrontiers in genetics · 2022Article
- Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.Scientific reports · 2021Article
- Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.Orphanet journal of rare diseases · 2020Article
- POLG mutations presenting as Charcot-Marie-Tooth disease.Journal of the peripheral nervous system : JPNS · 2019Article
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Authors and funding
9 authors at 2 institutions in 1 country.
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Abstract
Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p.Arg148* in the N-Myc downstream-regulated gene 1. Here, we report findings from the Czech Republic, where HMSNL was found in 12 Czech patients from eight families. In these 12 patients, 11 of the causes were due to p.Arg148* mutation inherited from both parents by the autosomal recessive mechanism. But in one case, the recessive mutation was inherited only from one parent (father) and unmasked owing to an uniparental isodisomy of the entire chromosome eight. The inherited peripheral neuropathy owing to an isodisomy of the whole chromosome pointed to an interesting, less frequent possibility of recessive disease and complications with genetic counseling.
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