|本期目录/Table of Contents|

[1]刘楠,王萍,徐晓薇,等.合并语言发育迟缓的尿道下裂患儿遗传学病因分析[J].天津医科大学学报,2024,30(04):371-373,376.[doi:10.20135/j.issn.1006-8147.2024.04.0371]
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合并语言发育迟缓的尿道下裂患儿遗传学病因分析(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04期
页码:
371-373,376
栏目:
病例报告
出版日期:
2024-07-10

文章信息/Info

Title:
-
文章编号:
1006-8147(2024)044-0371-04
作者:
刘楠王萍徐晓薇王学韬武晋英李佳慈舒剑波
(天津市儿科研究所,天津市儿童出生缺陷防治重点实验室,天津市儿童医院(天津大学儿童医院),天津 300134)
Author(s):
-
关键词:
尿道下裂全外显子测序染色体显性智力低下23型SETD5基因
Keywords:
-
分类号:
R726.9
DOI:
10.20135/j.issn.1006-8147.2024.04.0371
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

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[2] SOCIETY FOR MATERNAL-FETAL MEDICINE (SMFM),SPARKS T N. Hypospadias[J]. Am J Obstet Gynecol,2021,225(5):B18-B20.
[3] TARULLI G A,CRIPPS S M,PASK A J,et al. Spatiotemporal map of key signaling factors during early penis development[J]. Dev Dyn,2022,251(4):609-624.
[4] LI X,LIU A,ZHANG Z,et al. Prenatal diagnosis of hypospadias with 2-dimensional and 3-dimensional ultrasonography[J]. Sci Rep,2019,9(1):8662.
[5] YU X,NASSAR N,MASTROIACOVO P,et al. Hypospadias prevalence and trends in international birth defect surveillance systems,1980-2010[J]. Eur Urol,2019,76(4):482-490.
[6] FERNANDEZ N,CHUA M,VILLANUEVA J,et al. Neural network non-linear modeling to predict hypospadias genotype-phenotype correlation[J]. J Pediatr Urol,2023,19(3):288.e1-288.e11.
[7] JOODI M,AMERIZADEH F,HASSANIAN S M,et al. The genetic factors contributing to hypospadias and their clinical utility in its diagnosis[J]. J Cell Physiol,2019,234(5):5519-5523.
[8] PINEYRO-RUIZ C,SERRANO H,PEREZ-BRAYFIELD M R,et al. New frontiers on the molecular underpinnings of hypospadias according to severity[J].Arab J Urol,2020,18(4):257-266.
[9] CHEN Z,LEI Y,FINNELL R H,et al.Whole-exome sequencing study of hypospadias[J]. iScience,2023,26(5):106663.
[10] MASSON E,ZOU W B,GENIN E,et al. Expanding ACMG variant classification guidelines into a general framework[J]. Hum Geno-mics,2022,16(1):31.
[11] NAKAGAWA T,HATTORI S,HOSOI T,et al. Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes[J]. Front Genet,2023,13:1022339.
[12] CRIPPA M,BESTETTI I,MAITZ S,et al. SETD5 Gene haploinsufficiency in three patients with suspected KBG syndrome[J]. Front Neurol,2020,11:631.
[13] ZAGHI M,LONGO F,MASSIMINO L,et al. SETD5 haploinsufficiency affects mitochondrial compartment in neural cells[J]. Mol Autism,2023,14(1):20.
[14] GROZEVA D,CARSS K,SPASIC-BOSKOVIC O,et al. De novo loss-of-function mutations in SETD5,encoding a methyltransferase in a 3p25 microdeletion syndrome critical region,cause intellectual disability[J]. Am J Hum Genet,2014,94(4):618-624.
[15] SESSA A,FAGNOCCHI L,MASTROTOTARO G,et al. SETD5 Regulates chromatin methylation state and preserves global transcriptional fidelity during brain development and neuronal wiring[J]. Neuron,2019,104(2):271-289,e13.
[16] DELIU E,ARECCO N,MORANDELL J,et al. Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition[J]. Nat Neurosci,2018,21(12):1717-1727.
[17] JAISWAL D,TURNIANSKY R,MORESCO J J,et al. Function of the MYND domain and C-Terminal region in regulating the subcellular localization and catalytic activity of the SMYD family lysine methyltransferase set5[J]. Mol Cell Biol,2020,40(2):e00341-19.
[18] ANDONEGUI-ELGUERA M A,CACERES-GUTIERREZ R E,LOPEZ-SAAVEDRA A,et al. The roles of histone post-translational modifications in the formation and function of a mitotic chromosome[J]. Int J Mol Sci,2022,23(15):8704.
[19] JUUL A,GRAVHOLT C H,DE VOS M,et al. Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential[J]. Front Endocrinol (Lausanne),2023,4:1160884.
[20] GUL M,HILDORF S,SILAY M S. Sexual functions and fertility outcomes after hypospadias repair[J]. Int J Impot Res,2021,33(2):149-163.
[21] ABBAS T O,BRAGA L H,SPINOIT A F,et al. Urethral plate quality assessment and its impact on hypospadias repair outcomes: a systematic review and quality assessment[J]. J Pediatr Urol,2021,17(3):316-325.
[22] GURBUZ F,ALKAN M,ELIK G,et al. Gender identity and assignment recommendations in disorders of sex development patients: 20 years′ experience and challenges[J]. J Clin Res Pediatr Endocrinol,2020,12(4):347-357.
[23] ACIMI S. What term to choose: ambiguous genitalia or disorders of sex development (DSD)[J]. Front Pediatr,2019,7:316.
[24] PIRES SF,TOLEZANO GC,DA COSTA SS,et al. Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma[J]. Pediatr Blood Cancer,2020,67(11):e28376.
[25] THORPE J,OSEI-OWUSU I A,AVIGDOR B E,et al. Mosaicism in Human Health and Disease[J]. Annu Rev Genet,2020,54:487-510.

相似文献/References:

[1]刘楠 综述,蔡春泉 审校.尿道下裂的病因与诊疗现状[J].天津医科大学学报,2022,28(01):108.
[2]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.[doi:10.20135/j.issn.1006-8147.2024.01.0089]

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: 2024-07-10