Farshid Parvini - Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran
Reza Farrokhi - Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran
Seyed Reza Pourhosseini - Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran
Mohadese Kashiyani - Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, Iran

Background and Aim: Czech dysplasia (CD) metatarsal type is an autosomal-dominant disorder characterized by early‐onset progressive pseudorheumatoid arthritis, platyspondyly, normal height, short third and fourth metatarsals, and the absence of ophthalmological problems or cleft palate. CD is caused by mutations in the COL۲A۱ gene. The COL۲A۱ gene provides instructions for making one component of type II collagen, called the pro-alpha۱ (II) chain. The aim of this study was to explore the molecular mechanism of Czech dysplasia in three affected patients from a single family.Methods: Whole exome sequencing (WES) was utilized to identify the disease-causing mutation in the affected proband. Subsequently, Sanger sequencing was performed for the patient and her family members in order to confirm the detected mutation.Results: Obtained results revealed a novel heterozygous missense mutation c.C۴۲۴T:p.P۱۴۲S in the COL۲A۱ gene of proband studied. This mutation was confirmed by Sanger sequencing in the patient and her affected mother and brother and segregated with the autosomal dominance inheritance pattern of CD. Furthermore, genotype-phenotype correlation analysis confirmed the disease-causing nature of the mutation found.Conclusion: Totally, current report uncovered one rare novel pathogenic missense mutation in COL۲A۱ gene in the family studied. It can also aid to conduct genetic counseling, prenatal diagnosis and clinical management of these types of genetic disorders.

Czech dysplasia, COL۲A۱, missense mutation, genetic counseling