A Novel SOX9 H169Q Mutation in a Family With Overlapping Phenotype of Mild Campomelic Dysplasia and Small Patella Syndrome
A Novel SOX9 H169Q Mutation in a Family With Overlapping Phenotype of Mild Campomelic Dysplasia and Small Patella Syndrome
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DOI：
10.1002/ajmg.a.36134
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发表时间：
2013-10-01
影响因子：
2
通讯作者：
Nishimura, Gen
中科院分区：
文献类型：
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作者：
Matsushita, Masaki;Kitoh, Hiroshi;Nishimura, Gen
非致死性扁豆性发育不良（CD）和小髌骨综合征（SPS）之间的表型相似性已被证明，其中不同的遗传缺陷已被确定。我们报告了一例家族性骨骼发育不良伴轻度CD和SPS重叠表型的病例，包括坐骨-耻骨骨化缺陷，股骨颈延长，髌骨发育不全，第一和第二脚趾之间的空间增加（凉鞋间隙）。直接测序分析表明，在SOX9基因编码区存在一个新的错义突变（p.H169Q）， TBX4基因突变呈阴性。p.H169Q突变体的功能分析显示，突变蛋白的转激活能力降低，但未完全消除。在本病例中，残留的SOX9功能可能导致极其轻微的CD表型。(c) 2013 Wiley Periodicals, Inc.；
The phenotypic similarities have been demonstrated between non-lethal campomelic dysplasia (CD) and small patella syndrome (SPS), in which different genetic defects have been identified. We report on a familial case of skeletal dysplasia with overlapping phenotype of mild CD and SPS, including defective ischio-pubic ossification, elongated femoral neck, hypoplastic patellae, and increased space between the first and the second toes (sandal gap). Direct sequencing analysis demonstrated a novel missense mutation (p.H169Q) within the coding region of the SOX9 gene and negative for TBX4 mutations. Functional analysis of the p.H169Q mutant revealed reduced but not fully abolished transactivation capacity of the mutated protein. Retained residual SOX9 function might contribute to an extremely mild CD phenotype in the present cases. (c) 2013 Wiley Periodicals, Inc.