Ontology highlight
ABSTRACT:
SUBMITTER: Carvalho CM
PROVIDER: S-EPMC4057820 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Carvalho Claudia M B CM Zuccherato Luciana W LW Williams Christopher L CL Neill Nicholas J NJ Murdock David R DR Bainbridge Matthew M Jhangiani Shalini N SN Muzny Donna M DM Gibbs Richard A RA Ip Wan W Guillerman Robert Paul RP Lupski James R JR Bertuch Alison A AA
BMC medical genetics 20140604
<h4>Background</h4>Shwachman-Diamond syndrome (SDS) is an autosomal recessive ribosomopathy caused mainly by compound heterozygous mutations in SBDS. Structural variation (SV) involving the SBDS locus has been rarely reported in association with the disease. We aimed to determine whether an SV contributed to the pathogenesis of a case lacking biallelic SBDS point mutations.<h4>Case presentation</h4>Whole exome sequencing was performed in a patient with SDS lacking biallelic SBDS point mutations. ...[more]