biostudies-literatureLi JNational Natural Science Foundation of Chinae1878https://www.ebi.ac.uk/biostudies/studies/S-EPMC8922959biostudies-literatureUnknown10(3)Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage-covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss-of-function mutations in EXT1 or EXT2 gene. Clinical examination was performed to diagnose the patients: Whole exome sequencing (WES) was used to identify pathogenic mutations in the proband, which is confirmed by Sanger sequencing and co-segregation analysis: qRT-PCR was performed to identify the mRNA expression level of EXT1 in patient peripheral blood samples: minigene splicing assay was performed to mimic the splicing process of EXT1 variants in vitro. We evaluated the pathogenicity of EXT1 c.1056 + 1G > T in a Chinese family with HME. The Molecular genetics & genomic medicineGenetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.PMC892295982172011Cheng DLi JJin CHan YZhen JWang ZZhou YAfalseGenetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage-covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss-of-function mutations in EXT1 or EXT2 gene. Clinical examination was performed to diagnose the patients: Whole exome sequencing (WES) was used to identify pathogenic mutations in the proband, which is confirmed by Sanger sequencing and co-segregation analysis: qRT-PCR was performed to identify the mRNA expression level of EXT1 in patient peripheral blood samples: minigene splicing assay was performed to mimic the splicing process of EXT1 variants in vitro. We evaluated the pathogenicity of EXT1 c.1056 + 1G > T in a Chinese family with HME. The 2022-01-01T00:00:00Z2022 Mar2025-04-04T08:01:29.86Z2025-04-04T08:01:29.86ZS-EPMC89229593510695110.1002/mgg3.1878