背景:Ras-2激酶抑制因子(CNKSR2)基因的连接增强子的突变被认为是Houge型X连锁综合征性智力低下的原因。CNKSR2基因突变罕见,我们报告了携带CNKSR2的新无义突变的患者,c.625C>T(p。Gln209*),并考虑到以前的文献,回顾了这种罕见疾病的CNKSR2基因的临床特征和突变。
方法:我们报告一例7岁5个月大的中国患者,有智力障碍的临床症状,语言缺陷,癫痫和多动症。遗传研究揭示了CNKSR2的一种新的无义变体,尚未报道。
方法:根据临床表现,突变位点的遗传模式和ACMG分类为1类病因疾病,患者被诊断为由CNKSR2基因突变引起的Houge型X连锁综合征智力低下。
方法:患者给予丙戊酸(VPA)逐渐滴定。
结果:服用丙戊酸后,他没有进一步的癫痫发作。
结论:这是首次报道CNKSR2中的无义变体,c.625C>T(p。Gln209*),这一发现可以扩大CNKSR2突变谱,也可能支持Houge型X连锁综合征智力低下的进一步研究.
BACKGROUND: Mutations of connector enhancer of kinase suppressor of Ras-2 (CNKSR2) gene were identified as the cause of Houge type of X-linked syndromic mental retardation. The mutations of CNKSR2 gene are rare, we reporta patient carrying a novel nonsense mutation of CNKSR2,c.625C > T(p.Gln209∗) and
review the clinical features and mutations of CNKSR2 gene for this rare condition considering previous literature.
METHODS: We report a case of a 7-year and 5-month-old Chinese patient with clinical symptoms of intellectual disability, language defect, epilepsy and hyperactivity. Genetic study revealed a novel nonsense variant of CNKSR2, which has not been reported yet.
METHODS: According to clinical manifestations, genetic pattern and ACMG classification of mutation site as Class 1-cause disease, the patient was diagnosed as Houge type of X-linked syndromic mental retardation caused by CNKSR2 gene mutation.
METHODS: The patient was administrated with a gradual titration of valproic acid (VPA).
RESULTS: On administration of valproic acid, he had no further seizures.
CONCLUSIONS: This is the first time to report a nonsense variant in CNKSR2, c.625C > T(p.Gln209∗), this finding could expand the spectrum of CNKSR2 mutations and might also support the further study of Houge type of X-linked syndromic mental retardation.