ArticleMolecular genetics & genomic medicine2017
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Motor, Postural, and Communicative Phenotype in SHQ1-Related Neurodevelopmental Disorder with Dystonia and Seizures: An Interdisciplinary Case Report and Hypothesis-Generating Physiotherapy Framework.Journal of clinical medicine · 2026Article
- Interprotomer communication and functional asymmetry in H/ACA snoRNPs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant.Radiology case reports · 2025Article
- Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.Archives of disease in childhood · 2024Article
- 2.7 Å cryo-EM structure of human telomerase H/ACA ribonucleoprotein.Nature communications · 2024Article
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- Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.Human genetics · 2023Article
- SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.Human genome variation · 2023Article
- HumanFrontiers in genetics · 2023Article
- H/ACA Small Ribonucleoproteins: Structural and Functional Comparison Between Archaea and Eukaryotes.Frontiers in microbiology · 2021Review
- Human Hyperekplexic Mutations in Glycine Receptors Disinhibit the Brainstem by Hijacking GABAiScience · 2019Article
- Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.Molecular genetics & genomic medicine · 2017Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# 300126), the gene encoding NAP57 (aka dyskerin). The typically missense mutations modulate the interaction of NAP57 with its chaperone SHQ1, but no DC mutations have been identified in SHQ1 (MIM# 613663). Here, we report on two compound heterozygous mutations in SHQ1 in a patient with a severe neurological disorder including cerebellar degeneration.
methodsThe SHQ1 mutations were identified by patient exome sequencing. The impact of the mutations was assessed in pulldown assays with recombinant NAP57.
resultsThe SHQ1 mutations were the only set of mutations consistent with an autosomal recessive mode of inheritance. The mutations map to the SHQ1-NAP57 interface and impair the interaction of the recombinant SHQ1 variants with NAP57.
conclusionIntrauterine growth retardation and the neurological phenotype of the patient are reminiscent of the severe clinical variant of DC, the Hoyeraal-Hreidarsson syndrome (HH). Hence, SHQ1 screening may be warranted in patients with inherited bone marrow failure syndromes.
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