Dyskeratosis congenita: a literature review

Alsabbagh, Manahel Mahmood

doi:10.1111/ddg.14268

Cited by 40 publications

(76 citation statements)

References 149 publications

(328 reference statements)

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“…A combination of candidate gene sequencing, linkage studies and, more recently, whole exome sequencing have identified at the moment 14 genes involved in telomere shortening involved with DC or similar phenotypes ( Table 1 ) [ 54 ]. These genetic defects represent between 70–80% of patients with DC [ 55 ].…”

Section: Molecular Bases and Diagnosismentioning

confidence: 99%

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

Callea

Martinelli

Scalisi

et al. 2022

Genes

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Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors. It may also involve immunodeficiencies, dental, pulmonary and liver disorders, and other minor complication. Dyskeratosis congenita shows marked genetic heterogeneity, as at least 14 genes are responsible for the shortening of telomeres characteristic of this disease. This review discusses clinical characteristics, molecular genetics, disease evolution, available therapeutic options and differential diagnosis of dyskeratosis congenita to provide an interdisciplinary and personalized medical assessment that includes family genetic counseling.

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Section: Molecular Bases and Diagnosismentioning

confidence: 99%

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

Callea

Martinelli

Scalisi

et al. 2022

Genes

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Section: Other Premature-ageing Syndromesmentioning

confidence: 99%

“…87,88 Moreover, dyskeratosis congenita is a genetically heterogeneous disorder showing autosomal recessive, autosomal dominant, and X-linked inheritance, and resulting from mutations of several genes encoding telomerase components leading to a disease characterized by premature telomere shortening, which manifests clinically as the classic triad of reticulate hyperpigmentation, nail dystrophy and leukoplakia, and with increased risk of cancer and other potentially lethal complications, such as bone marrow failure, lung and liver diseases. 3,89 Other progeroid syndromes result from impairments in mitochondrial pathways. 90,91 For example, Fontaine progeroid syndrome is a fatal neonatal disorder characterized by sparse hair, lipodystrophy, thin skin, osteoporosis, and growth retardation, resulting from de novo missense mutations in SLC25A24, coding for the calcium-binding mitochondrial carrier protein SCaMC-1, and leading to mitochondrial dysfunction in the affected patients.…”

Section: Other Premature-ageing Syndromesmentioning

confidence: 99%

Mutations Involved in Premature-Ageing Syndromes

Coppedè¹

2021

TACG

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Premature-ageing syndromes are a heterogeneous group of rare genetic disorders resembling features of accelerated ageing and resulting from mutations in genes coding for proteins required for nuclear lamina architecture, DNA repair and maintenance of genome stability, mitochondrial function and other cellular processes. Hutchinson–Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best-characterized progeroid syndromes referred to as childhood- and adulthood-progeria, respectively. This article provides an updated overview of the mutations leading to HGPS, WS, and to the spectrum of premature-ageing laminopathies ranging in severity from congenital restrictive dermopathy (RD) to adult-onset atypical WS, including RD-like laminopathies, typical and atypical HGPS, more and less severe forms of mandibuloacral dysplasia (MAD), Néstor-Guillermo progeria syndrome (NGPS), atypical WS, and atypical progeroid syndromes resembling features of HGPS and/or MAD but resulting from impaired DNA repair or mitochondrial functions, including mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome and mandibuloacral dysplasia associated to MTX2 (MADaM). The overlapping signs and symptoms among different premature-ageing syndromes, resulting from both a large genetic heterogeneity and shared pathological pathways underlying these conditions, require an expert clinical evaluation in specialized centers paralleled by next-generation sequencing of panels of genes involved in these disorders in order to establish as early as possible an accurate clinical and molecular diagnosis for a proper patient management.

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“…Finally, collecting nail material for renewed histological examination after therapy allows evaluation of therapeutic success [16]. Clinical differential diagnoses of onychomycoses include onychodystrophies of different origins as well as rare diseases from the spectrum of congenital dyskeratoses or systemic amyloidosis [17,18].…”

mentioning

confidence: 99%