哈钦森-吉尔福德早衰综合征的临床表现及基因分析：一例报告
Clinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome: A case report.
作者信息
Zhang Su-Li, Lin Shuang-Zhu, Zhou Yan-Qiu, Wang Wan-Qi, Li Jia-Yi, Wang Cui, Pang Qi-Ming
机构信息
Department of Neuroscience, Hainan Women and Children's Medical Center, Haikou 570100, Hainan Province, China.
Diagnosis and Treatment Center for Children, First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China.
出版信息
World J Clin Cases. 2022 May 26;10(15):5018-5024. doi: 10.12998/wjcc.v10.i15.5018.
BACKGROUND
This case report describes a child with Hutchinson-Gilford progeria syndrome (HGPS, OMIM: 176670) caused by (OMIM: 150330) gene mutation, and we have previously analyzed the clinical manifestations and imaging characteristics of this case. After 1-year treatment and follow-up, we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the patient.
CASE SUMMARY
In April 2020, a 2-year-old boy with HGPS was found to have an abnormal appearance, and growth and development lagged behind those of children of the same age. The child's weight did not increase normally, the veins of the head were clearly visible, and he had shallow skin color and sparse yellow hair. Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing, which was verified by Sanger sequencing. The results showed that there was a synonymous heterozygous mutation of C.1824 C>T (P. G608G) in the gene.
CONCLUSION
Mutation of the gene provides a molecular basis for diagnosis of HGPS and genetic counseling of the family.
背景
本病例报告描述了一名由（OMIM：150330）基因突变引起的哈钦森-吉尔福德早衰综合征（HGPS，OMIM：176670）患儿，我们之前已分析过该病例的临床表现和影像学特征。经过1年的治疗和随访，我们重点分析该患者临床表现和基因诊断的变化。
病例摘要
2020年4月，一名患有HGPS的2岁男孩被发现外貌异常，生长发育落后于同龄儿童。患儿体重未正常增加，头部静脉清晰可见，肤色浅，黄发稀疏。从患者及其父母采集的外周血DNA样本采用高通量全外显子测序进行检测，并经桑格测序验证。结果显示，基因存在C.1824 C>T（P.G608G）同义杂合突变。
结论
基因的突变可为HGPS的诊断及该家庭的遗传咨询提供分子依据。
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