Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome
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DOI：
10.1111/cge.12982
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发表时间：
2017-10-01
影响因子：
3.5
通讯作者：
Everman, D. B.
中科院分区：
文献类型：
--
作者：
Zarate, Y. A.;Kalsner, L.;Everman, D. B.
SATB 2相关综合征（SAS）是由SATB 2基因改变引起的多系统疾病。我们描述了12个人的表型和基因型与10个独特的（从头在11个测试）致病性变异（1个剪接位点，5移码，3无义，和2错义）在SATB 2和审查所有的情况下，在已发表的文献中报道的点改变引起的。在这里描述的队列中，发育迟缓（DD）与严重的语言障碍，面部畸形，牙齿畸形，在所有情况下都存在。我们还提出了第三例胫骨弯曲的个人谁，就像在文献中的前2个人，也有一个截短的致病性变异SATB 2。我们探讨了早期基因型-表型相关性，并重申了这种可识别综合征的主要临床特征：普遍性DD伴严重言语障碍、轻度面部畸形、高频率颅面异常、行为问题和脑神经放射学改变。随着最近提出的SAS个体监测指南被提供者采用，将进一步描述其他表型特征的频率和影响。同样，随着新的SAS病例的发现，进一步探索基因型-表型相关性将是可能的。
SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift, 3 nonsense, and 2 missense) in SATB2 and review all cases reported in the published literature caused by point alterations thus far. In the cohort here described, developmental delay (DD) with severe speech compromise, facial dysmorphism, and dental anomalies were present in all cases. We also present the third case of tibial bowing in an individual who, just as in the previous 2 individuals in the literature, also had a truncating pathogenic variant of SATB2. We explore early genotype-phenotype correlations and reaffirm the main clinical features of this recognizable syndrome: universal DD with severe speech impediment, mild facial dysmorphism, and high frequency of craniofacial anomalies, behavioral issues, and brain neuroradiographic changes. As the recently proposed surveillance guidelines for individuals with SAS are adopted by providers, further delineation of the frequency and impact of other phenotypic traits will become available. Similarly, as new cases of SAS are identified, further exploration of genotype-phenotype correlations will be possible.