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[1]刘楠,王萍,徐晓薇,等.1例2p11.1-q21.1片段重复导致智力障碍患儿的遗传学及表型分析[J].天津医科大学学报,2024,30(01):89-92.[doi:10.20135/j.issn.1006-8147.2024.01.0089]
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1例2p11.1-q21.1片段重复导致智力障碍患儿的遗传学及表型分析(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
30卷
期数:
2024年01期
页码:
89-92
栏目:
病例报告
出版日期:
2024-01-01

文章信息/Info

Title:
-
文章编号:
1006-8147(2024)01-0089-04
作者:
刘楠王萍徐晓薇王学韬武晋英李佳慈舒剑波
(天津市儿童医院(天津大学儿童医院);天津市儿科研究所;天津市儿童出生缺陷防治重点实验室,天津300134)
Author(s):
-
关键词:
2号染色体智力障碍G显带染色体核型分析全外显子测序拷贝数变异
Keywords:
-
分类号:
R725.9
DOI:
10.20135/j.issn.1006-8147.2024.01.0089
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

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[8] TISSERANT E,VITOBELLO A,CALLEGARIN D,et al. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH[J]. Ann Hum Genet,2022,86(4):171-180.
[9] ALTHAGAFI A,ALSUBAIE L,KATHIRESAN N,et al. DeepSVP:integration of genotype and phenotype for structural variant prioritization using deep learning[J]. Bioinformatics, 2022, 38(6):1677-1684.
[10] RIGGS E R,ANDERSEN E F,CHERRY A M,et al. Technical standards for the interpretation and reporting of constitutional copy-number variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource(ClinGen)[J]. Genet Med,2020,22(2):245-257.
[11] WOLFE K,MCQUILLIN A,ALESI V,et al. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications[J]. Am J Med Genet B Neuropsychiatr Genet, 2018, 177(4):397-405.
[12] BELLIL H,MOLINA-GOMES D,QUIBEL T,et al. Prenatal diagnosis of 2q13 duplications:the crucial role of the family survey in genetic counseling on novel copy number variations[J]. Eur J Med Genet,2020,63(8):103956.
[13] DHARMADHIKARI A V,KANG S H,SZAFRANSKI P,et al. Small rare recurrent deletions and reciprocal duplications in 2q21.1,including brain-specific ARHGEF4 and GPR148[J]. Hum Mol Genet, 2012,21(15):3345-3355.
[14] WANG J C,RADCLIFF J,COE S J,et al. Effects of platforms,size filter cutoffs,and targeted regions of cytogenomic microarray on detection of copy number variants and uniparentaldisomy in prenatal diagnosis:results from 5026 pregnancies[J]. Prenat Diagn, 2019, 39(3):137-156.
[15] COLLINS R L,GLESSNER J T,PORCU E,et al. A cross-disorder dosage sensitivity map of the human genome[J]. Cell,2022,185(16):3041-3055.
[16] AUWERX C,LEPAMETS M,SADLER M C,et al. The individual and global impact of copy-number variants on complex human traits[J]. Am J Hum Genet,2022,109(4):647-668.
[17] THAXTON C,GOOD M E,DISTEFANO M T,et al. Utilizing Clin Gen gene-disease validity and dosage sensitivity curations to inform variant classification[J]. Hum Mutat,2022,43(8):1031-1040.
[18] VOISIN N,SCHNUR R E,DOUZGOU S,et al. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy[J]. Am J Hum Genet,2021,108(5):857-873.
[19] CHEN Y,CRAMER P. Structure of the super-elongation complex subunit AFF4 C-terminal homology domain reveals requirements for AFF homo-and heterodimerization[J]. J Biol Chem,2019,294(27):10663-10673.
[20] TORUN D,ARSLAN M,YUKSEL Z. Coexistence of severe developmental delay,epilepsy,and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype:a case report[J]. Am J Med Genet A, 2021, 185(5):1554-1560.
[21] PATRICK R J,WEIMER J,DAVIS-KEPPEN L,et al. Novel variants identified in CKAP2L in two siblings with Filippi syndrome[J]. Cold Spring Harb Mol Case Stud, 2022,8(2):a006130.
[22] HORTON C,LADUCA H,DECKMAN A, et al. Universalgermline-paneltesting for individuals with pheochromocytoma and paraganglioma produces high diagnostic yield[J]. J Clin Endocrinol Metab, 2022,107(5):e1917-e1923.
[23] LIN Y H,JONG Y J,HUANG P C,et al. Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory[J]. Acta Obstet Gynecol Scand, 2020,99(6):775-782.
[24] DANIS D,JACOBSEN JOB,BALACHANDRAN P,et al. SvAnna:efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing[J]. Genome Med, 2022,14(1):44.

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备注/Memo

备注/Memo:
基金项目 天津市卫生健康委员会科技项目(TJWJ2021ZD007);天津市卫生健康委员会科技项目(ZC20120);天津自然科学基金(21JCZDJC01030);天津市医学重点学科(专科)建设项目(TJYXZDXK-040A)
作者简介 刘楠(1981-),女,副主任医师,硕士, 研究方向:遗传学; 通信作者:舒剑波,E-mail:plsn2017@163.com。
更新日期/Last Update: 2024-01-01