Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome
3
Issued Date
2022-07-01
Resource Type
ISSN
00099163
eISSN
13990004
Scopus ID
2-s2.0-85127386324
Pubmed ID
35352826
Journal Title
Clinical Genetics
Volume
102
Issue
1
Start Page
66
End Page
71
Rights Holder(s)
SCOPUS
Bibliographic Citation
Clinical Genetics Vol.102 No.1 (2022) , 66-71
Suggested Citation
Kantaputra P., Guven Y., Kalayci T., Özer P.K., Panyarak W., Intachai W., Olsen B., Carlson B.M., Praditsap O., Tongsima S., Ngamphiw C., Jatooratthawichot P., Tucker A.S., Ketudat Cairns J.R. Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome. Clinical Genetics Vol.102 No.1 (2022) , 66-71. 71. doi:10.1111/cge.14134 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/83693
Title
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome
Other Contributor(s)
Abstract
Mutations in LTBP3 are associated with Dental Anomalies and Short Stature syndrome (DASS; MIM 601216), which is characterized by hypoplastic type amelogenesis imperfecta, hypodontia, underdeveloped maxilla, short stature, brachyolmia, aneurysm and dissection of the thoracic aorta. Here we report a novel (p.Arg545ProfsTer22) and a recurrent (c.3107-2A > G) LTBP3 variants, in a Turkish family affected with DASS. The proband, who carried compound heterozygous variant c.3107-2A > G, p.Arg545ProfsTer22, was most severely affected with DASS. The proband's father, who carried the heterozygous variant c.3107-2A > G had short stature and prognathic mandible. The mother and brother of the proband carried the heterozygous variant p.Arg545ProfsTer22, but only the mother showed any DASS characteristics. The c.3107-2A > G and the p.Arg545ProfsTer22 variants are expected to result in abnormal LTPB3 protein, failure of TGFβ-LAP-LTBP3 complex formation, and subsequent disruption of TGFβ secretion and activation. This is the first report of heterozygous carriers of LTBP3 variants showing phenotypes. The new findings of DASS found in this family include taurodontism, single-rooted molars, abnormal dentin, calcified dental pulp blood vessels, prognathic mandible, failure of mandibular tooth eruption, interatrial septal aneurysm, secundum atrial septal defect, tricuspid valve prolapse, and a recurrent glenohumeral joint dislocation.