Inherited Bone Marrow Failure Syndromes

Dror, Yigal

doi:10.1002/9780470987001.ch3

Cited by 11 publications

(7 citation statements)

References 310 publications

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“…Patients who fulfill our diagnostic criteria for an IBMFS (12) are recruited. The diagnosis of the specific IBMFS is determined according to the previously described diagnostic guidelines (13). The diagnostic criteria of SDS are provided in Table 1.…”

Section: Registrymentioning

confidence: 99%

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

Allen

Klaassen

et al. 2011

Clinical Genetics

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Our knowledge of the phenotypes of inherited bone marrow failure syndromes (IBMFSs) derives from case reports or case series in which only one IBMFS was studied. However, the substantial phenotypic overlap necessitates comparative analysis between the IBMFSs. Shwachman-Diamond syndrome (SDS) is an IBMFS that the appreciation of what comprises its clinical phenotype is still evolving. In this analysis we used data on 125 patients from the Canadian Inherited Marrow Failure Study (CIMFS), which is a prospective multicenter population-based study. Thirty-four cases of SDS patients were analyzed and compared to other patients with the four most common IBMFSs on the CIMFS: Diamond Blackfan anemia, Fanconi anemia (FA), Kostmann/severe congenital neutropenia and dyskeratosis congenita (DC). The diagnosis of SDS, FA and DC was often delayed relative to symptoms onset; indicating a major need for improving tools to establish a rapid diagnosis. We identified multiple phenotypic differences between SDS and other IBMFSs, including several novel differences. SBDS biallelic mutations were less frequent than in previous reports (81%). Importantly, compared to patients with biallelic mutations, patients with wild type SBDS had more severe hematological disease but milder pancreatic disease. In conclusion, comprehensive study of the IBMFSs can provide useful comparative data between the disorders. SBDS-negative SDS patients may have more severe hematological failure and milder pancreatic disease.

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Section: Registrymentioning

confidence: 99%

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

Allen

Klaassen

et al. 2011

Clinical Genetics

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“…Inherited bone marrow failure syndromes (IBMFSs) are a heterogeneous group of genetic disorders characterized by varying degrees of peripheral cytopenias resulting from the inadequate hematopoiesis (Dror 2006). IBMFSs may present with atypical features, which renders it diYcult to establish an accurate diagnosis (Teo et al 2008).…”

Section: Introductionmentioning

confidence: 99%

“…IBMFSs may present with atypical features, which renders it diYcult to establish an accurate diagnosis (Teo et al 2008). More than 40 genes have been identiWed as causing IBMFSs and genetic testing is gradually being introduced into clinical practice (Dror 2006;Dokal and Vulliamy 2008). Nevertheless, based on data from the Canadian Inherited Marrow Failure Registry (CIMFR) 53% of the patients with IBMFSs who underwent clinically indicated genetic testing could not be genotyped.…”

Section: Introductionmentioning

confidence: 99%

Ataxia and pancytopenia caused by a mutation in TINF2

et al. 2008

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The syndrome of ataxia-pancytopenia is an autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and acute myeloid leukemia. The genetic basis of this condition is unknown. We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita. We propose that some cases of ataxia-pancytopenia may be affected by DC.

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“…Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) that commonly features chronic macrocytic anemia, reticulocytopenia and physical malformations. 1,2 The spectrum of anemia patterns in DBA is broad: many patients have severe anemia requiring life-long treatment, whereas others have very mild anemia requiring no treatment. 3 While 80% of patients initially respond to corticosteroids, only about 40% continue to respond to long-term low-dose corticosteroid therapy.…”

mentioning

confidence: 99%

Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia

et al. 2017

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Diamond-Blackfan anemia (DBA) features hypoplastic anemia and congenital malformations, largely caused by mutations in various ribosomal proteins. The aim of this study was to characterize the spectrum of genetic lesions causing DBA and identify genotypes that correlate with phenotypes of clinical significance. Seventy-four patients with DBA from across Canada were included. Nucleotide-level mutations or large deletions were identified in 10 ribosomal genes in 45 cases. The RPS19 mutation group was associated with higher requirement for chronic treatment for anemia than other DBA groups. Patients with RPS19 mutations, however, were more likely to maintain long-term corticosteroid response without requirement for further chronic transfusions. Conversely, patients with RPL11 mutations were less likely to need chronic treatment. Birth defects, including cardiac, skeletal, hand, cleft lip or palate and genitourinary malformations, also varied among the various genetic groups. Patients with RPS19 mutations had the fewest number of defects, while patients with RPL5 had the greatest number of birth defects. This is the first study to show differences between DBA genetic groups with regards to treatment. Previously unreported differences in the rate and types of birth defects were also identified. These data allow better patient counseling, a more personalized monitoring plan, and may also suggest differential functions of DBA genes on ribosome and extra-ribosomal functions.

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Inherited Bone Marrow Failure Syndromes

Cited by 11 publications

References 310 publications

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

Ataxia and pancytopenia caused by a mutation in TINF2

Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia

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