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In this study, we report on a prenatal case presented with skeletal, cardiac and spinal malformations. And his father had elongated limbs, contractures of the proximal interphalangeal joints, high myopia and scoliosis. We conducted whole exome sequencing (WES) on the fetus-parental trio and a heterozygous variant (hg19 chr5:127,673,685, c.3598\u2009+\u20094A\u2009&gt;\u2009G, NM_001999.4) in intron 27 of the <jats:italic>FBN2<\/jats:italic> gene was successfully identified, inherited from the father. Reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to evaluate the potential splicing effect of this variant, which confirmed that the variant caused a deletion of exon 27 (126\u00a0bp) by disrupting the splice-donor site and destroyed the 17th calcium-binding epidermal growth factor-like (cbEGF) domain. Our research not only finds the etiology of the disease in affected individuals and expands the mutation spectrum of <jats:italic>FBN2<\/jats:italic> gene, but also provides genetic counseling and fertility guidance for this family.<\/jats:p>","DOI":"10.1007\/s10528-023-10550-2","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T16:06:22Z","timestamp":1699977982000},"page":"2495-2503","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly"],"prefix":"10.1007","volume":"62","author":[{"given":"Cuiping","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengchang","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyu","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinxin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengfeng","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,11,14]]},"reference":[{"issue":"1","key":"10550_CR1","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1007\/s004390050777","volume":"103","author":"D Babcock","year":"1998","unstructured":"Babcock D, Gasner C et al (1998) A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. 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Parental consent to participate in the study for the fetus. All samples were collected after obtaining informed consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"All contributors have read and approved the submission to the Journal.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"This study ([2019]KY-080) was approved by the Ethics Committee of the Nanjing Maternity and Child Health Care Hospital and adhered to the Declaration of Helsinki. Samples and information were collected from the parents after written informed consent was obtained.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}}]}}