Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)
Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs. Fetal karyotyping and chromosomal microarray analysis (...
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Frontiers Media S.A.
2022-06-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.887082/full |
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| author | Lihong Fan Pengzhen Jin Yeqing Qian Guosong Shen Xueping Shen Minyue Dong Minyue Dong |
| author_facet | Lihong Fan Pengzhen Jin Yeqing Qian Guosong Shen Xueping Shen Minyue Dong Minyue Dong |
| author_sort | Lihong Fan |
| collection | DOAJ |
| description | Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs. Fetal karyotyping and chromosomal microarray analysis (CMA) did not find any abnormality while trio whole-exome sequencing (trio-WES) identified bi-allelic variants in smoothened (SMO) and (NM_005631.5: c.1219C > G, NP_005622.1: p. Pro407Ala, and NM_005631.5: c.1619C > T, NP_005622.1: p. Ala540Val). Sanger sequencing validated these variants. The mutations are highly conserved across multiple species. In-depth bioinformatics analysis and familial co-segregation implied the compound heterozygous variants as the likely cause of postaxial polydactyly in this fetus. Our findings provided the basis for genetic counseling and will contribute to a better understanding of the complex genetic mechanism that underlies postaxial polydactyly. |
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| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-13T16:50:12Z |
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| series | Frontiers in Genetics |
| spelling | doaj.art-92f9613d660447a3a2f098aeef624c5e2022-12-22T02:38:57ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-06-011310.3389/fgene.2022.887082887082Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)Lihong Fan0Pengzhen Jin1Yeqing Qian2Guosong Shen3Xueping Shen4Minyue Dong5Minyue Dong6Center of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, Huzhou, ChinaWomen’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaWomen’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, Huzhou, ChinaCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, Huzhou, ChinaWomen’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou, ChinaPostaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs. Fetal karyotyping and chromosomal microarray analysis (CMA) did not find any abnormality while trio whole-exome sequencing (trio-WES) identified bi-allelic variants in smoothened (SMO) and (NM_005631.5: c.1219C > G, NP_005622.1: p. Pro407Ala, and NM_005631.5: c.1619C > T, NP_005622.1: p. Ala540Val). Sanger sequencing validated these variants. The mutations are highly conserved across multiple species. In-depth bioinformatics analysis and familial co-segregation implied the compound heterozygous variants as the likely cause of postaxial polydactyly in this fetus. Our findings provided the basis for genetic counseling and will contribute to a better understanding of the complex genetic mechanism that underlies postaxial polydactyly.https://www.frontiersin.org/articles/10.3389/fgene.2022.887082/fullpostaxial polydactylywhole-exome sequencingbi-allelic variantssmoothenedgenetic counseling |
| spellingShingle | Lihong Fan Pengzhen Jin Yeqing Qian Guosong Shen Xueping Shen Minyue Dong Minyue Dong Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO) Frontiers in Genetics postaxial polydactyly whole-exome sequencing bi-allelic variants smoothened genetic counseling |
| title | Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO) |
| title_full | Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO) |
| title_fullStr | Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO) |
| title_full_unstemmed | Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO) |
| title_short | Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO) |
| title_sort | case report prenatal diagnosis of postaxial polydactyly with bi allelic variants in smoothened smo |
| topic | postaxial polydactyly whole-exome sequencing bi-allelic variants smoothened genetic counseling |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.887082/full |
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