AUTHOR=Xu Peiwen , Li Ruirui , Huang Sexin , Sun Menghan , Liu Jiaolong , Niu Yuping , Zou Yang , Li Jie , Gao Ming , Li Xiaolei , Gao Xuan , Gao Yuan 

TITLE=A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

JOURNAL=Frontiers in Genetics

VOLUME=Volume 11 - 2020

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00143

DOI=10.3389/fgene.2020.00143

ISSN=1664-8021

ABSTRACT=Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears. Mutations in FBN2 (produces Fibrillin-2) are responsible for causing this disease. A family with CCA was investigated in this study and a novel variant  c.3724+3A>C (also known as IVS28+3C>G) in FBN2 was found in the nine patients from the family, but was not found in seven unaffected relatives. Reverse transcription-PCR (RT-PCR) and cDNA sequencing data showed that the exon 28 was cut off in the FBN2 gene. The FBN2 c.3724+3A>C variant led to an in-frame deletion during transcription, which eventually triggered CCA in the Chinese family.