关键词: 短肋多指（趾）畸形综合征；, 基因；, 突变；, 纯合子；, 病例报告；, 短胁-胸廓发育不良

Abstract: A case of the short rib-thoracic dysplasia syndrome type Ⅲ (SRTD3) was genetically analyzed, to understand its clinical characteristics and genetic mutation. The fetus of this case was found short ribs, narrow rib cage and short long bones by ultrasound. The umbilical cord blood of fetus and the peripheral blood of the parents were collected for exome sequencing and verified by Sanger. A homozygous mutation in the DYNC2H1 gene was confirmed by the whole exome sequencing, which was c.4267C>T (p.Arg1423Cys). The mutation of DYNC2H1 gene and clinical phenotypes were consistent with the diagnosis of short rib-thoracic dysplasia type Ⅲ, which was verified by Sanger. In this case, the mutation was inherited from the parents who had normal clinical phenotype. The homozygous mutation of c.4267C>T of the DYNC2H1 gene is the causative cause of this SRTD3 case, which is a recessive inheritance. The prenatal consultation should be strengthened, and if necessary, assisted reproduction should be used to obtain a healthy offspring.

Key words: Short rib-polydactyly syndrome；, Genes；, Mutation；, Homozygote；, Case reports；, Short rib-thoracic dysplasia