The molecular characteristics of congenital muscular torticollis patients living in Qinghai-Tibetan Plateau

Background: Congenital Muscular Torticollis (CMT) is defined as interstitial fibrosis and contracture of one side of the sternocleidomastoid muscle (SCM), typically resulting in the head and neck deviating to the affected side, the lower jaw turning to the opposite side, and limitation of the rotation of the head and neck. As China’s largest and highest region, the Qinghai-Tibetan Plateau (QTP) is recognized as one of the world’s critical biodiversity hotspots. Methods: The blood and SCM bio-samples from 20 patients and their parents at Qinghai Women and Children’s Hospital were collected. The clinical properties of these individuals, including gender, ethnic group, and age at initial diagnosis, were analyzed. Whole exon sequencing was then performed on the blood and SCM bio-samples to characterize the molecular properties of CMT patients living in the Qinghai-Tibetan Plateau (QTP) region. Results: The female to male ratio was 9:11 for these 20 patients, the age varied from 1 to 13 years old, 17 of them showed SCM fibrosis, and 18 of them were found CMT symptoms when they were born. The number of single nucleotide polymorphisms (SNP) varied a lot for across different chromosome and lots of them were located in chromosome 1 and 2. The variation of C→T and G→A were the most common alteration types, and patients have no significant differences in various ethnic groups. The comparison of molecular variations in family members suggested the genetic variations for CMT, which could provide targets in treatment of CMT. Conclusions: The findings indicated that glucose and lipid metabolism, as well as antigen processing, might be involved in the development of CMT. This could increase the efficacy of diagnosis and prognosis, ultimately leading to the development of optimal targeted therapeutics for CMP patients living in QPT.