The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-07-27 DOI:10.1007/s00381-024-06544-z
Jon Foss-Skiftesvik, Carl Christian Larsen, Ulrik Kristoffer Stoltze, Thomas Kofod, Hanne Hove, Lars Bøgeskov, Elsebet Østergaard
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引用次数: 0

Abstract

Craniosynostosis constitutes one of the most common congenital cranial malformations, affecting approximately 6/10,0000 live births. A genetic etiology has long been known for several forms of syndromic craniosynostosis, including pathogenic variants in TWIST1 and FGFR3 in children with Saethre-Chotzen and Muenke syndrome. Over the last decade, reports of genetic aberrations in TCF12 in children with craniosynostosis have emerged, in particular in cases with premature closure of the coronal suture(s). In this study, we, therefore, systematically reviewed the rapidly growing knowledge of TCF12-related coronal craniosynostosis, clearly illustrating its high degree of genotype and phenotype variability. With the two novel cases presented, at least 113 cases of TCF12-related coronal craniosynostosis have currently been reported. By pooling data from several prospectively collected undifferentiated craniosynostosis cohorts (ntotal = 770), we estimate a prevalence of pathogenic TCF12 variants of at least 2%. Overall, pathogenic germline variants in TCF12 are relatively frequent in children with coronal craniosynostosis, accounting for ∼10-20% of TWIST1- and FGFR1/2/3-negative cases, with even higher rates for bicoronal and syndromic cases. Genetic counseling is recommended for all children with craniosynostosis, and involvement of the coronal suture(s) should precipitate TCF12 testing.

Abstract Image

TCF12致病变体在冠状颅畸形患儿中的作用--系统综述及两例新病例。
颅畸形是最常见的先天性颅骨畸形之一,约有 10,000,000 名活产婴儿患有此病。几种综合征颅骨畸形的遗传学病因早已为人所知,包括萨特-乔岑综合征和穆恩科综合征患儿中 TWIST1 和 FGFR3 的致病变体。在过去的十年中,关于颅畸形患儿中 TCF12 基因畸变的报道不断出现,尤其是在冠状缝过早闭合的病例中。因此,在本研究中,我们系统地回顾了与 TCF12 相关的冠状颅畸形迅速增长的知识,清楚地说明了其基因型和表型的高度可变性。加上此次报告的两例新病例,目前至少有 113 例 TCF12 相关冠状颅畸形病例被报道。通过汇集几个前瞻性收集的未分化颅骨畸形队列(总计 = 770 例)的数据,我们估计致病性 TCF12 变异的发生率至少为 2%。总体而言,TCF12的致病性种系变异在冠状颅畸形患儿中较为常见,占TWIST1和FGFR1/2/3阴性病例的10%至20%,在双冠和综合征病例中的发生率甚至更高。建议对所有颅畸形患儿进行遗传咨询,如果冠状缝受累,应立即进行 TCF12 检测。
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来源期刊
Child's Nervous System
Child's Nervous System 医学-临床神经学
CiteScore
3.00
自引率
7.10%
发文量
322
审稿时长
3 months
期刊介绍: The journal has been expanded to encompass all aspects of pediatric neurosciences concerning the developmental and acquired abnormalities of the nervous system and its coverings, functional disorders, epilepsy, spasticity, basic and clinical neuro-oncology, rehabilitation and trauma. Global pediatric neurosurgery is an additional field of interest that will be considered for publication in the journal.
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