两例新发SATB2基因突变致语言障碍的临床表型特征并文献复习
Clinical Phenotypic Characteristics of two Cases Caused by Language Disorder with Novel SATB2 Gene Variants and Literature Review
张晚霞;梁爱民;杜娟;李世杰;黄鸿眉
1:国家儿童医学中心首都医科大学附属北京儿童医院保健中心
摘要【Abstract] Objective To investigate the clinical features,diagnosis,treatment and follow-up of language dis- order caused by SATB2 gene mutation. Methods Two children diagnosed with SATB2 associated syndrome (SAS) in the developmental behavior clinic of our center from 2019 to 2020 were retrospectively analyzed. The clinical phenotypic characteristics and treatment of SAS related language disorders in this study and the literatures were reviewed and summarized. Results Both male patients presented main clinical manifestations of general developmental delay, dentition irregularity and expressive language disorder. The second case was also diagnosed with congenital cleft palate. The WES test showed that one de novo heterozygous frameshift variant in SATB2 gene was detected in case 1 (c.1259dupA,p. N420Kfs * 17); and another de novo heterozygous missense variant in SATB2 gene was de- tected in case 2 (c. 169G>A,p. G57S). These two variants had not been reported before. According to the clinical manifestations and genetic test results, the two children were diagnosed as SAS. This study also reviewed 86 SAS patients (including 2 cases reported in this paper) with detailed language features,treatment and follow-up data reported locally and internationally. All patients presented receptive and expressive language disorders,91.7% of them reported abnormal dentition development, and 36.0% reported cleft palate. Most of the people with SAS were nonverbal communicators (66. 3%) , and 65.4% showed the characteristics of speech apraxia. Moreoer 94.9% of SAS patients used gestures instead of verbal communication and had feeding problems ( 73.2%)， dysphagia(72.9%)， and salivation (60.0%). Conclusion SATB2 gene mutation leads to various degree of language disorders， accompanied by oral dysplasia. The early recognition symptoms of SAS are general developmental delay with speech restriction and language disorders. In clinical practice, it is necessary to formulate the overall clinical intervention and rehabilitation plan according to the phenotypic characteristics of oral development and language-speech disorders in SAS patients.
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