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Advisor(s)
Abstract(s)
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 finding, but anemia and thrombocytopenia
are present in approximately 40% of the patients
(1–4).
In 2002, fine mapping identified the locus for SDS in
band 7q11. More recently Boocock et al. (5) identified 18
positional candidate genes in this locus and examined
eight of them for occurrence SDS-associated changes.
They found alterations only in a previously uncharacterised
gene. This gene, designated SBDS (Shwachman-
Bodian-Diamond syndrome), is composed of five exons
spanning 7.9Kb. The authors also described a pseudogene
(SBDSP) with 97% homology to SBDS (5).
Description
Keywords
SBDS Shwachman-Diamond syndrome
Citation
Lima, Rosa; Costa, Elísio; Rocha, Cristina; Vieira, Emília; Santos, Rosário; Barbot, José; Rocha, Herculano (2005). Molecular characterization of a portuguese patient with shwachman-diamond syndrome. Journal of Pediatric Gastroenterology and Nutrition. ISSN 0277-2116. 41:1 p. 115-116
Publisher
Lippincott, Williams & Wilkins