Xia-Gibbs综合征1例报道-国际临床研究杂志-CSCIED科技核心评价数据库-手机版

Xia-Gibbs综合征1例报道

A case report of Xia-Gibbs Syndrome

ES评分 0 浏览量：694 下载量：0

DOI	10.12208/j.ijcr.20220088
刊名	国际临床研究杂志 International Journal of Clinical Research
年，卷(期)	2022, 6(3)
作者	黄世兴,吴萍*,
作者单位	重庆大学附属三峡医院重庆 ;
摘要	一名有肌张力减退、言语延迟及智力障碍的5岁患者，转诊遗传咨询后使用全外显子组测序，鉴定了一个新的AHDC1移码突变，并定义为Xia-Gibbs综合征（XGS）。此外，我们比较了文献中报道的患者的表型。全基因组外显子测序（WES）测试使得能够识别以高临床遗传异质性为特征的这种疾病的因果关系。
Abstract	A five years old child is characterized by developmental delay, intellectual disability and hypotonia. The whole exome sequencing (WES) test revealed a novel de novo heterozygous frameshift mutation in AHDC1, and was defined Xia-GibbsSyndrome.Butthe parents are healthy. In addition, we compared the clinical manifestations of reported patients. Whole genome exome sequencing (WES) testing enables the identification of causal relationships in this disease characterized by high clinical genetic heterogeneity.
关键词	Xia-Gibbs综合征；AHDC1；全外显子测序
KeyWord	Xia-Gibbs Syndrome; AHDC1; Whole exon sequencing
基金项目
页码	1-3

参考文献
相关文献

[1] Johanna Acosta. Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome. MolSyndromol2017;8:308–312.
[2] David R. Murdock, Yunyun Jiang, Michael Wangler Mary García-Acero, et al. Xia Gibbs syndrome in adulthood : a case report with insight into the natural history of the condition, 2019 ColdSpringHarbMolCaseStud5:a003608.
[3] Xinran Cheng, Fang Tang, Xuyun Hu et al.Two Chinese Xia ‐ Gibbs syndromepatients with partial growth hormone deficiency, Mol Genet Genomic Med.2019; 7: e596.
[4] Chatr-Aryamontri A, Oughtred R, Boucher L, Rust J, Chang C, Kolas NK, et al. The Bio GRID in teractiondatabase: 2017 update. Nucleic Acids Res. 2017; 45: D369- D79.
[5] Olah J, Vincze O, Virok D, Simon D, Bozso Z, okesi N, et al. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alphasynuclein. J Biol Chem. 2011;286:34088-100.
[6] Lorena Díaz-Ordoñez1, et al. Syndromic Intellectual Disability Caused by a Novel Truncating Variantin AHDC1: ACaseReport,IJMSVol44,No3,May2019.
[7] Johanna Acosta. Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome. MolSyndromol2017;8:308–312
[8] Wang Q, Huang X, Liu Y,et al. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder. EurJMed Genet. 2019 Jan 4. Pii:S1769-7212(18)30411-7.
[9] XiaF,BainbridgeMN,TanTY,WanglerMF,ScheuerleAE,ZackaiEH,etal.De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014; 94:784-9.

引用本文

黄世兴,吴萍*. Xia-Gibbs综合征1例报道 [J]. 国际临床研究杂志. 2022; 6; (3). 1 - 3.

文献评论

相关学者

相关机构