Dhiman Shalini, Panigrahi Inusha, Sharma Maryada, Chaudhry Chakshu, Garg Mahak
Department of Pediatrics, PGIMER, Chandigarh, India.
Department of Otorhinolaryngology, PGIMER, Chandigarh, India.
J Pediatr Genet. 2023 Jul 28;13(4):258-262. doi: 10.1055/s-0043-1771527. eCollection 2024 Dec.
The gene codes for a highly conserved transcription factor in a basic helix-loop-helix transcription factors family. The pattern of inheritance is autosomal dominant in Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, and Sweeney-Cox syndrome. Major features of these syndromes include coronal synostosis, vision problems, and deafness, and facial features include hypertelorism, low-set ears, arched eyebrows, beaked nose, maxillary hypoplasia, and other dysmorphisms including broad great toes, clinodactyly, brachydactyly, and cutaneous syndactyly. (bHLH) transcription factor regulates the formation of head and limbs in the embryo. We describe three families affected with craniosynostosis in whom a sporadic variant was identified on whole exome sequencing, chromosomal microarray, and Sanger sequencing.
该基因编码一个在碱性螺旋-环-螺旋转录因子家族中高度保守的转录因子。在塞特雷-乔岑综合征、罗宾诺-索劳夫综合征和斯威尼-考克斯综合征中，遗传模式为常染色体显性遗传。这些综合征的主要特征包括冠状缝早闭、视力问题和耳聋，面部特征包括眼距过宽、低位耳、弓形眉、钩状鼻、上颌骨发育不全以及其他畸形，包括宽大足趾、指侧弯、短指和皮肤并指。（bHLH）转录因子调节胚胎中头部和四肢的形成。我们描述了三个患有颅缝早闭的家系，在这些家系中，通过全外显子组测序、染色体微阵列和桑格测序鉴定出了一个散发变异。
