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

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, the contracture of major joints, scoliosis, pectus deformities, and crumpled ears. Mutations in FBN2 (which encodes 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 identified as IVS28+3A > C), in FBN2 was found in nine patients from the family but was not found in seven unaffected relatives. Reverse transcription-PCR (RT-PCR) and complementary DNA (cDNA) sequencing data showed that exon 28 was skipped 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.

SUBMITTER: Xu P

PROVIDER: S-EPMC7058790 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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

Xu Peiwen P Li Ruirui R Huang Sexin S Sun Menghan M Liu Jiaolong J Niu Yuping Y Zou Yang Y Li Jie J Gao Ming M Li Xiaolei X Gao Xuan X Gao Yuan Y

Frontiers in genetics 20200228

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, the contracture of major joints, scoliosis, pectus deformities, and crumpled ears. Mutations in FBN2 (which encodes 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 id ...[more]

PMID: 32184806

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