Shwachman-Diamond Syndrome

Myers, Kasiani C.; Shimamura, Akiko

doi:10.1007/978-3-319-61421-2_8

Cited by 12 publications

(31 citation statements)

References 81 publications

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“…It is second to only cystic fibrosis in leading causes of inherited pancreatic dysfunction [45]. The hematological features of SDS vary but typically intermittent severe neutropenia with absolute counts <0.5×10 9 /L is the initial finding and may be followed by bilineage or trilineage cytopenia in ~20% patients [3].…”

Section: Shwachman–diamond Syndromementioning

confidence: 99%

“…An update on 37 SDS patients in the North American SDS registry reported a wide phenotypic spectrum with only about half the patients having the classic phenotypic criteria. Notably, about 65% of patients had congenital abnormalities, as described above [45,48]. Genetic testing for mutations in the SBDS gene is diagnostic of the majority of patients despite heterogeneity of clinical presentation.…”

Section: Shwachman–diamond Syndromementioning

confidence: 99%

“…Bone marrow clonality has been known to occur in SDS, with the most common molecular changes being abnormalities in i(7q) and del(20q) [48]. SDS patients also have hepatomegaly with or without elevation of serum transaminases, and these may also resolve with age [45]. …”

Section: Shwachman–diamond Syndromementioning

confidence: 99%

“…There has been no strong evidence to suggest malignancies associated with G-CSF treatment in this cohort [50]. Pancreatic insufficiency is managed with supplementation of vitamins A, D, E, K, and with replacement of pancreatic enzymes which also aids in treating growth failure due to malabsorption [45]. SDS patients may be at increased risk of AML; however, data for association between SDS and MDS have been inconclusive.…”

Section: Shwachman–diamond Syndromementioning

confidence: 99%

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Neonatal manifestations of inherited bone marrow failure syndromes

Khincha

Savage

2016

Seminars in Fetal and Neonatal Medicine

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SUMMARY The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond–Blackfan anemia, confer risks of multiple medical complications later in life, including an increased risk of cancer. Some IBMFS may present with cytopenias in the neonatal period whereas others may present only with congenital physical abnormalities and progress to pancytopenia later in life. A thorough family history and detailed physical examination are integral to the work-up of any neonate in whom there is a high index of suspicion for an IBMFS. Correct detection and diagnosis of these disorders is important for appropriate long-term medical surveillance and counseling not only for the patient but also for appropriate genetic counselling of their families regarding recurrence risks in future children and generations.

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Section: Shwachman–diamond Syndromementioning

confidence: 99%

Section: Shwachman–diamond Syndromementioning

confidence: 99%

Section: Shwachman–diamond Syndromementioning

confidence: 99%

Section: Shwachman–diamond Syndromementioning

confidence: 99%

See 2 more Smart Citations

Neonatal manifestations of inherited bone marrow failure syndromes

Khincha

Savage

2016

Seminars in Fetal and Neonatal Medicine

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“…The Shwachman-Diamond syndrome (SDS), characterized by bone marrow failure, exocrine pancreatic dysfunction, and skeletal abnormalities, is a rare inherited autosomal recessive disease, with ~90% of the patients harboring inheritable mutations of the Shwachman-Bodian-Diamond syndrome ( SBDS ) gene at chromosome 7q11 (Myers et al, 1993; Myers et al, 2013; Popovic et al, 2002). The majority of SBDS gene mutations lead to truncated SBDS proteins (Boocock et al, 2003; Nakashima et al, 2004).…”

Section: Introductionmentioning

confidence: 99%

Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment

Liu

Cao

et al. 2018

Cell Reports

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SUMMARY Shwachman-Diamond syndrome (SDS) is a rare pediatric disease characterized by various systemic disorders, including hematopoietic dysfunction. The mutation of Shwachman-Bodian-Diamond syndrome (SBDS) gene has been proposed to be a major causative reason for SDS. Although SBDS patients were reported to have shorter telomere length in granulocytes, the underlying mechanism is still unclear. Here we provide data to elucidate the role of SBDS in telomere protection. We demonstrate that SBDS deficiency leads to telomere shortening. We found that overexpression of disease-associated SBDS mutants or knockdown of SBDS hampered the recruitment of telomerase onto telomeres, while the overall reverse transcriptase activity of telomerase remained unaffected. Moreover, we show that SBDS could specifically bind to TPP1 during the S phase of cell cycle, likely functioning as a stabilizer for TPP1-telomerase interaction. Our findings suggest that SBDS is a telomere-protecting protein that participates in regulating telomerase recruitment.

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