重庆医科大学附属儿童医院全科医学科//儿童发育疾病研究教育部重点实验室//国家儿童健康与疾病临床医学研究中心//儿童发育重大疾病国家国际科技合作基地//儿科学重庆市重点实验室
段远辉,硕士,住院医师,E-mail:duanyuanhui361@163.com,小儿神经病学
纸质出版日期:2023-03-20,
收稿日期:2022-10-10,
扫 描 看 全 文
段远辉,曹洁,欧跃徐等.10q24.3缺失导致全面性发育迟缓的诊断方法探讨[J].中山大学学报(医学科学版),2023,44(02):348-353.
DUAN Yuan-hui,CAO Jie,OU Yue-xu,et al.Diagnostic Methods of Global Developmental Delay Caused by 10q24.3 Heterozygous Loss: A Case Discussion[J].Journal of Sun Yat-sen University(Medical Sciences),2023,44(02):348-353.
段远辉,曹洁,欧跃徐等.10q24.3缺失导致全面性发育迟缓的诊断方法探讨[J].中山大学学报(医学科学版),2023,44(02):348-353. DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2023.0221.
DUAN Yuan-hui,CAO Jie,OU Yue-xu,et al.Diagnostic Methods of Global Developmental Delay Caused by 10q24.3 Heterozygous Loss: A Case Discussion[J].Journal of Sun Yat-sen University(Medical Sciences),2023,44(02):348-353. DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2023.0221.
目的
2
探讨10q24.3缺失导致全面性发育迟缓患儿的诊断方法。
方法
2
通过回顾性分析1例全面性发育迟缓患儿的临床资料以及患儿和患儿父母家系低深度全基因组拷贝数变异测序(CNVseq)和家系全外显子组测序(WES)的检测结果。
结果
2
患儿为10月龄男性,四大能区均有发育落后,并伴有特殊面容(眼距增宽、斜视、鼻梁低平、前额凸出、腭裂、高腭弓等),四肢肌张力低下等表现,CNVseq和WES基因检测发现患儿存在10q24.3新发杂合缺失,该区间包含基底细胞痣综合征基因
SUFU
和低镁血症、癫痫及智力发育迟滞关联基因
CNNM2
,局灶性节段性肾小球硬化伴神经发育综合征
TRIM8
基因,推测患儿发病的原因与
SUFU
基因和
CNNM2
基因以及
TRIM8
基因缺失高度相关。
结论
2
对全面性发育迟缓、特殊面容表现的患儿应尽早完善基因检测,以明确诊断,有利于判断预后。
Objective
2
To discuss the diagnostic methods of global developmental delay caused by 10q24.3 heterozygous loss.
Methods
2
A retrospective analysis was conducted on the clinical data of one child with global developmental delay, and the results of low depth whole-genome copy number variation sequencing (CNVseq) and family whole exome sequencing (WES) of the child and his parents.
Results
2
The patient was a 10-month-old male with developmental retardation in four areas, with some special features (ocular hypertelorism, strabismus, flat nose bridge, protruding forehead, cleft palate, high palatal arch, etc.) and hypotonia of limbs. The CNVseq and WES test showed that the patient had new 10q24.3 heterozygosis loss. Because this region contains the gene
SUFU
associated with basal cell nevus syndrome and the gene
CNNM2
associated with hypomagnesemia, seizures, and mental retardation, and the gene
TRIM8
associated of Focal segmental glomerulosclerosis with neurodevelopmental syndrome, we speculated that the cause of the disease in the child was highly related to the heterozygosity deletion of
SUFU
gene and
CNNM2
gene and
TRIM8
gene.
Conclusion
2
Genetic testing should be improved as soon as possible for children with global developmental delay and special facial manifestations, so as to make clear diagnosis and to judge prognosis.
10q24.3缺失全面性发育迟缓SUFU基因CNNM2基因TRIM8基因
10q24.3 heterozygous lossglobal developmental delaySUFU geneCNNM2 geneTRIM8 gene
Jimenez-Gomez A, Standridge SM. A refined approach to evaluating global developmental delay for the international medical community[J]. Pediatr Neurol, 2014, 51(2): 198-206.
Vasudevan P, Suri M. A clinical approach to developmental delay and intellectual disability[J]. Clin Med (Lond), 2017, 17(6): 558-561.
Mithyantha R, Kneen R, McCann E,et al. Current evidence-based recommendations on investigating children with global developmental delay[J]. Arch Dis Child, 2017, 102(11): 1071-1076.
Lecavalier L. Behavioral and emotional problems in young people with pervasive developmental disorders: relative prevalence, effects of subject characteristics, and empirical classification[J]. J Autism Dev Disord, 2006, 36(8): 1101-1114.
何雪梅, 邹卓, 张杨萍, 等. GNB1基因突变所致全面发育迟缓1例[J]. 中国神经精神疾病杂志, 2022, 48(5): 299-302.
He XM, Zou Z, Zhang YP, et al. A case of global developmental delay due to GNB1 gene mutation[J]. Chin J Nerv Mental Dis, 2022, 48(5): 299-302.
杨威, 胡周军, 余晓芬, 等. 中国人手足裂畸形患者中染色体10q24.3区域DNA重复突变的鉴定[J]. 中华医学杂志, 2006, 86(10): 652-658.
Yang W, Hu ZJ, Yu XF, et al. A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family[J]. Natl Med J China, 2006, 86(10): 652-658.
Xiang R, Du R, Guo S, et al. Microduplications of 10q24 detected in two Chinese patients with split-hand/foot malformation type 3[J]. Ann Clin Lab Sci, 2017, 47(6): 754-757.
Briscoe J, Thérond PP. The mechanisms of Hedgehog signalling and its roles in development and disease[J]. Nat Rev Mol Cell Biol, 2013, 14(7): 416-429.
邹捷粮, 李迎红, 文业千, 等. 青少年弱视康复治疗研究进展[J]. 眼科学报, 2023, 38(1): 52-62.
Zou JL, Li YH, Wen YQ, et al. Research progress on rehabilitation treatment of adolescent amblyopia[J]. Eye Sci, 2023, 38(1): 52-62.
Pastorino L, Ghiorzo P, Nasti S, et al. Identification of a SUFU germline mutation in a family with Gorlin syndrome[J]. Am J Med Genet A, 2009, 149A(7): 1539-1543.
Smith MJ, Beetz C, Williams SG, et al. Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations[J]. J Clin Oncol, 2014, 32(36): 4155-4161.
Arjona FJ, de Baaij JH, Schlingmann KP, et al. CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia[J]. PLoS Genet, 2014, 10(4): e1004267.
Accogli A, Scala M, Calcagno A, et al. CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations[J]. Eur J Med Genet, 2019, 62(3): 198-203.
Marzano F, Guerrini L, Pesole G,et al. Emerging roles of TRIM8 in health and disease[J]. Cells, 2021, 10(3): 561.
Weng PL, Majmundar AJ, Khan K, et al. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis[J]. Am J Hum Genet, 2021, 108(2): 357-367.
0
浏览量
0
下载量
0
CSCD
关联资源
相关文章
相关作者
相关机构