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 ide...

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Bibliographic Details
Published in:BMC pediatrics 2023-08, Vol.23 (1), p.1-424, Article 424
Main Authors: Yang, Xiaodong, Pu, Siyu, Xiang, Bo, Tang, Xueyang, Chen, Jing
Format: Article
Language:English
Subjects:
Abnormalities
Amino acids
Ankle
Bones
Case Report
Case reports
Congenital anomaly
Families & family life
Fingers & toes
Gene mutations
Health aspects
Identification and classification
Ligands
Medical prognosis
Morphology
Mutation
Pediatric research
Pediatrics
Physiological aspects
Polydactyly
Proteins
SMO
Software
Tibia
Tibial hemimelia
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Summary: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. Keywords: Tibial hemimelia, Congenital anomaly, SMO, Polydactyly
ISSN:1471-2431
1471-2431
DOI:10.1186/s12887-023-04167-y