Genetic analysis and prenatal diagnosis of a pregnant woman with Sheldon-Hall syndrome / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To provide genetic testing and prenatal diagnosis for a woman with Sheldon-Hall syndrome.@*METHODS@#The woman was subjected to targeted capture and next-generation sequencing for variant of genes associated with skeletal disorders. And the result was verified in her parents and fetus.@*RESULTS@#The woman was found to harbor a c.188G>A variant of the TNNT3 gene, which was also found in her affected mother and the fetus. Her grandmother and grandmother's brother had similar manifestations, which was in line with an autosomal dominant inheritance. The same variant was not found in her father.@*CONCLUSION@#The c.188G>A variant of the TNNT3 gene probably underlay the distal joint contracture in this pedigree, based on which prenatal diagnosis was attained.