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- Title
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
- Authors
Zhang, Wenyan; Yao, Ziming; Guo, Ruolan; Cao, Jun; Li, Wei; Hao, Chanjuan; Zhang, Xuejun
- Abstract
Background: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal developmental delay, and gradually presents with variable facial dysmorphisms, a short stature, amelogenesis imperfecta, and progressive skeletal dysplasia affecting the limbs, joints, hands, feet, and spine. Case presentation: We identified a homozygous novel nonsense mutation in exon 1 of SLC10A7 (NM_001300842.2: c.100G > T / p.Gly34*) segregating with the typical disease phenotype in a Han Chinese family. We reviewed the 12-year surgical treatment history with seven interventions on spine. Conclusion: To date, only 12 cases of the SLC10A7 mutation have been reported, mainly from consanguineous families. Our patient showed a relatively severe and broad clinical phenotype compared with previously reported cases. In this patient, annual check-ups and timely surgeries led to a good outcome.
- Subjects
DYSPLASIA; AMELOGENESIS imperfecta; SKELETAL dysplasia; SHORT stature; SPINE; SCOLIOSIS
- Publication
Orphanet Journal of Rare Diseases, 2023, Vol 18, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/s13023-023-02975-0