Article
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
BMC medical genetics - 4 Jun 2014
Carvalho Claudia M B, Zuccherato Luciana W, Williams Christopher L, Neill Nicholas J, Murdock David R, Bainbridge Matthew, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Ip Wan, Guillerman Robert Paul, Lupski James R, Bertuch Alison A
Abstract excerpt
BACKGROUND: 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. CASE PRESENTATION: Whole exome sequencing was...
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