Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
Abstract Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de novo heterozygous BICD2 missense variants in two...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-08-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00290-z |
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| _version_ | 1832594945040449536 |
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| author | Layla Masuda Akihiro Hasegawa Hiromi Kamura Fuyuki Hasegawa Michihiro Yamamura Kosuke Taniguchi Yuki Ito Kenichiro Hata Osamu Samura Aikou Okamoto |
| author_facet | Layla Masuda Akihiro Hasegawa Hiromi Kamura Fuyuki Hasegawa Michihiro Yamamura Kosuke Taniguchi Yuki Ito Kenichiro Hata Osamu Samura Aikou Okamoto |
| author_sort | Layla Masuda |
| collection | DOAJ |
| description | Abstract Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de novo heterozygous BICD2 missense variants in two fetuses with severe, prenatally diagnosed multiple arthrogryposis congenita. This report provides further insights into the genetics of this rare disease. |
| format | Article |
| id | doaj-art-f328667ec5474d7ab76dccc3d414bfa8 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-f328667ec5474d7ab76dccc3d414bfa82025-01-19T12:15:47ZengNature Publishing GroupHuman Genome Variation2054-345X2024-08-011111410.1038/s41439-024-00290-zMissense BICD2 variants in fetuses with congenital arthrogryposis and pterygiaLayla Masuda0Akihiro Hasegawa1Hiromi Kamura2Fuyuki Hasegawa3Michihiro Yamamura4Kosuke Taniguchi5Yuki Ito6Kenichiro Hata7Osamu Samura8Aikou Okamoto9Department of Obstetrics and Gynecology, The Jikei University School of MedicineDepartment of Obstetrics and Gynecology, The Jikei University School of MedicineDepartment of Maternal–Fetal Biology, National Research Institute for Child Health and DevelopmentCenter for Clinical Genetics, National Center for Child Health and DevelopmentDepartment of Obstetrics and Gynecology, The Jikei University School of MedicineDepartment of Maternal–Fetal Biology, National Research Institute for Child Health and DevelopmentDepartment of Obstetrics and Gynecology, The Jikei University School of MedicineDepartment of Maternal–Fetal Biology, National Research Institute for Child Health and DevelopmentDepartment of Obstetrics and Gynecology, The Jikei University School of MedicineDepartment of Obstetrics and Gynecology, The Jikei University School of MedicineAbstract Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de novo heterozygous BICD2 missense variants in two fetuses with severe, prenatally diagnosed multiple arthrogryposis congenita. This report provides further insights into the genetics of this rare disease.https://doi.org/10.1038/s41439-024-00290-z |
| spellingShingle | Layla Masuda Akihiro Hasegawa Hiromi Kamura Fuyuki Hasegawa Michihiro Yamamura Kosuke Taniguchi Yuki Ito Kenichiro Hata Osamu Samura Aikou Okamoto Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia Human Genome Variation |
| title | Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia |
| title_full | Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia |
| title_fullStr | Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia |
| title_full_unstemmed | Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia |
| title_short | Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia |
| title_sort | missense bicd2 variants in fetuses with congenital arthrogryposis and pterygia |
| url | https://doi.org/10.1038/s41439-024-00290-z |
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