The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
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DOI：
10.1136/jmg.2006.043869
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发表时间：
2007-04-01
影响因子：
4
通讯作者：
Ikegawa, Shiro
中科院分区：
文献类型：
--
作者：
Nishimura, Gen;Nakashima, Eiji;Ikegawa, Shiro
Shwachman-Bodian-Diamond综合征（SBDS）基因是Shwachman-Diamond综合征的致病基因，Shwachman-Diamond综合征是一种常染色体隐性遗传疾病，伴有胰腺外分泌功能不全、骨髓功能障碍和骨骼发育不良。我们在这里报告两个患者的骨骼表现在SBDS突变的表型谱的最末端。一名11岁的日本女孩因新生儿呼吸衰竭需要终身通气支持、严重身材矮小和严重发育迟缓而就诊。她在婴儿期出现中性粒细胞减少症，在儿童期发现血清淀粉酶降低。一名英国男孩是一名死胎，尸检发现肺发育不全和肝纤维化。这两个病例都有新生儿骨骼表现，包括扁平脊柱、花边状髂嵴和严重的干骺端发育不良，因此不属于已知的Shwachman-Diamond综合征骨骼表型范围，但类似于Sedaghatian型的脊椎错位发育不良（SMD）。女孩携带一个复发突变（183 TAR-> CT）和一个新的错义突变（79 T-> RC），而男孩携带两个复发突变（183 TA-> CT和258+ 2 T-> C）。我们还检查了SBDS在一个典型的SMD Sedaghantian型和8例新生儿SMD，但未能发现SBDS突变。我们的经验扩大了SBDS突变的表型谱，在其最末端，导致严重的新生儿SMD。
The Shwachman-Bodian-Diamond syndrome (SBDS) gene is a causative gene for Shwachman-Diamond syndrome, an autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow dysfunction and skeletal dysplasia. We report here on two patients with skeletal manifestations at the severest end of the phenotypic spectrum of SBDS mutations. An 11-year-old Japanese girl presented with neonatal respiratory failure necessitating lifelong ventilation support, severe short stature and severe developmental delay. She developed neutropenia in infancy, and decreased serum amylase was noted in childhood. A British boy was a stillbirth with pulmonary hypoplasia and hepatic fibrosis found on autopsy. Both cases had neonatal skeletal manifestations that included platyspondyly, lacy iliac crests and severe metaphysial dysplasia, and thus did not fall in the range of the known Shwachman-Diamond syndrome skeletal phenotype but resembled spondylometaphysial dysplasia (SMD) Sedaghatian type. The girl harboured a recurrent mutation (183TAR -> CT) and a novel missense mutation (79T -> RC), whereas the boy carried two recurrent mutations (183TA -> CT and 258+2T -> C). We also examined SBDS in one typical case with SMD Sedaghantian type and eight additional cases with neonatal SMD, but failed to discover SBDS mutations. Our experience expands the phenotypic spectrum of SBDS mutations, which, at its severest end, results in severe neonatal SMD.