Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence
نویسندگان
چکیده
منابع مشابه
A case of Shwachman–Diamond syndrome
Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400), characterized by exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow (BM) dysfunction, with a risk, as high as 30%, to develop myelodysplastic syndrome and/or acute myeloid leukaemia (MDS/AML). The SBDS gene (OMIM 607744) is localized on chromosome 7 at the band q11 and mutations of this gen...
متن کاملSHWACHMAN-DIAMOND SYNDROME Clinical, Genetic and Radiological Study
9 Conclusions: This study expanded the phenotypic features of SDS to include primary low-turnover osteoporosis and structural alterations in the brain. Pancreatic MRI showed characteristic changes in the SBDS mutation-positive patients while these were absent in the mutation-negative patients, suggesting that MRI can be used to differentiate patients harboring SBDS mutations from those without ...
متن کاملDefective ribosome assembly in Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and poor growth, is caused by mutations in the highly conserved SBDS gene. Here, we test the hypothesis that defective ribosome biogenesis underlies the pathogenesis of SDS. We create conditional mutants in the essential S...
متن کاملA Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child
Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countrie...
متن کاملMolecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) a rare autosomal recessive disorder described first time 1964 (1), is characterized by the association of exocrine pancreatic and bone marrow dysfunction. Other systemic findings (skeletal, liver and psychomotor) or problems secondary to bone marrow dysfunction may also be detected (1–4). Intermittent or persistent neutropenia is the most common hematologic find...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2012
ISSN: 1757-790X
DOI: 10.1136/bcr-2012-007305