ArticleHaematologica2016
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Article in Haematologica, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 43 citations in OpenAlex.
- Non-syndromic premature ovarian insufficiency associated with monoallelic LIG4 mutation via haploinsufficiency.Journal of ovarian research · 2026Article
- A Case of Long-Term Management of Oral Function in a Child with Dyskeratosis Congenita.Diagnostics (Basel, Switzerland) · 2026Article
- The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.EMBO molecular medicine · 2024Article
- Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2024Review
- Telomerase RNA-based aptamers restore defective myelopoiesis in congenital neutropenic syndromes.Nature communications · 2023Article
- USB1 is a miRNA deadenylase that regulates hematopoietic development.Science (New York, N.Y.) · 2023Article
- Dyskeratosis congenita and telomere biology disorders.Hematology. American Society of Hematology. Education Program · 2022Review
- Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.American journal of human genetics · 2022Article
- Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.Pediatric dermatology · 2022Article
- Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes.Blood advances · 2021Article
- miRNA-Based Regulation of Alternative RNA Splicing in Metazoans.International journal of molecular sciences · 2021Review
- Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia.Journal of clinical immunology · 2021Article
- NovelGenes · 2021Review
- When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis.Journal of clinical medicine · 2021Review
- Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.Journal of clinical immunology · 2020Article
- Functional roles of Grainyhead-like transcription factors in renal development and disease.Pediatric nephrology (Berlin, Germany) · 2020Review
- Challenges in Diagnosing Myelodysplastic Syndromes in the Era of Genetic Testing: Proceedings of the 13th Workshop of the European Bone Marrow Working Group.Pathobiology : journal of immunopathology, molecular and cellular biology · 2019Article
- Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelicProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.Journal of clinical immunology · 2018Article
- GRHL2 Is Required for Collecting Duct Epithelial Barrier Function and Renal Osmoregulation.Journal of the American Society of Nephrology : JASN · 2018Article
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Authors and funding
18 authors at 9 institutions in 4 countries.
Funding
Abstract
Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements.
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