PDF(Pubmed)
Abstract：
UNASSIGNED: Mutations in the TREX1 gene cause Aicardi-Goutières syndrome (AGS) 1, associated with a spectrum of autoimmune and neurodegenerative manifestations. AGS 1, the most severe neonatal type of AGS, is characterized by abnormal neurologic findings, visual inattention, hepatosplenomegaly, thrombocytopenia, skin rash, restlessness, and fever.
UNASSIGNED: The present study described two affected siblings from an Iranian family whose phenotypes overlap with intrauterine infections. They had almost similar presentations, including developmental delay, microcephaly, no fix and follow epileptic seizures and the same pattern of brain CT scan involvements. Following clinical and paraclinical assessments, whole-exome sequencing was employed to determine the disease-causing variant, and subsequently, PCR-Sanger sequencing was performed to indicate the segregation pattern of the candidate variant in family members.
UNASSIGNED: Genetic analysis revealed a novel homozygous missense variant (c.461A>C; p.D154A) in the TREX1 gene in affected family members. Sanger sequencing of other family members showed the expected zygosities.
UNASSIGNED: This study identifies a novel mutation in the TREX1 gene in this family and highlights the efficiency of next-generation sequencing-based techniques for obtaining a definite diagnosis in patients with early-onset encephalopathy.
UNASSIGNED: The present study described two affected siblings from an Iranian family whose phenotypes overlap with intrauterine infections. They had almost similar presentations, including developmental delay, microcephaly, no fix and follow epileptic seizures and the same pattern of brain CT scan involvements. Following clinical and paraclinical assessments, whole-exome sequencing was employed to determine the disease-causing variant, and subsequently, PCR-Sanger sequencing was performed to indicate the segregation pattern of the candidate variant in family members.
UNASSIGNED: Genetic analysis revealed a novel homozygous missense variant (c.461A>C; p.D154A) in the TREX1 gene in affected family members. Sanger sequencing of other family members showed the expected zygosities.
UNASSIGNED: This study identifies a novel mutation in the TREX1 gene in this family and highlights the efficiency of next-generation sequencing-based techniques for obtaining a definite diagnosis in patients with early-onset encephalopathy.
摘要：
■TREX1基因突变导致Aicardi-Goutières综合征（AGS）1，与一系列自身免疫和神经退行性表现有关。AGS1，最严重的新生儿AGS类型，以异常的神经系统表现为特征，视觉注意力不集中，肝脾肿大,血小板减少症,皮疹,躁动,和发烧。
■本研究描述了来自伊朗家庭的两个受影响的兄弟姐妹，其表型与宫内感染重叠。他们有几乎相似的演讲，包括发育迟缓,小头畸形,没有固定和跟随癫痫发作和相同模式的脑CT扫描受累。根据临床和临床评估，全外显子组测序用于确定致病变异，随后,进行PCR-Sanger测序以指示家族成员中候选变体的分离模式。
■遗传分析揭示了受影响的家族成员中TREX1基因中的一个新的纯合错义变体(c.461A>C;p.D154A)。其他家族成员的Sanger测序显示了预期的接合性。
■这项研究确定了该家族中TREX1基因的一种新突变，并强调了下一代基于测序的技术在早发性脑病患者中获得明确诊断的效率。
■本研究描述了来自伊朗家庭的两个受影响的兄弟姐妹，其表型与宫内感染重叠。他们有几乎相似的演讲，包括发育迟缓,小头畸形,没有固定和跟随癫痫发作和相同模式的脑CT扫描受累。根据临床和临床评估，全外显子组测序用于确定致病变异，随后,进行PCR-Sanger测序以指示家族成员中候选变体的分离模式。
■遗传分析揭示了受影响的家族成员中TREX1基因中的一个新的纯合错义变体(c.461A>C;p.D154A)。其他家族成员的Sanger测序显示了预期的接合性。
■这项研究确定了该家族中TREX1基因的一种新突变，并强调了下一代基于测序的技术在早发性脑病患者中获得明确诊断的效率。
