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A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report
BACKGROUND: Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were id...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463978/ https://www.ncbi.nlm.nih.gov/pubmed/37626311 http://dx.doi.org/10.1186/s12887-023-04167-y |
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author | Yang, Xiaodong Pu, Siyu Xiang, Bo Tang, Xueyang Chen, Jing |
author_facet | Yang, Xiaodong Pu, Siyu Xiang, Bo Tang, Xueyang Chen, Jing |
author_sort | Yang, Xiaodong |
collection | PubMed |
description | BACKGROUND: Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified. CASE PRESENTATION: Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. CONCLUSIONS: Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12887-023-04167-y. |
format | Online Article Text |
id | pubmed-10463978 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-104639782023-08-30 A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report Yang, Xiaodong Pu, Siyu Xiang, Bo Tang, Xueyang Chen, Jing BMC Pediatr Case Report BACKGROUND: Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified. CASE PRESENTATION: Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. CONCLUSIONS: Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12887-023-04167-y. BioMed Central 2023-08-25 /pmc/articles/PMC10463978/ /pubmed/37626311 http://dx.doi.org/10.1186/s12887-023-04167-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Yang, Xiaodong Pu, Siyu Xiang, Bo Tang, Xueyang Chen, Jing A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report |
title | A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report |
title_full | A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report |
title_fullStr | A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report |
title_full_unstemmed | A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report |
title_short | A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report |
title_sort | novel smoothed (smo) point mutation in congenital tibial hemimelia: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463978/ https://www.ncbi.nlm.nih.gov/pubmed/37626311 http://dx.doi.org/10.1186/s12887-023-04167-y |
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