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Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.
Kantaputra, Piranit; Guven, Yeliz; Kalayci, Tugba; Özer, Pelin Karaca; Panyarak, Wannakamon; Intachai, Worrachet; Olsen, Bjorn; Carlson, Bruce M; Praditsap, Oranud; Tongsima, Sissades; Ngamphiw, Chumpol; Jatooratthawichot, Peeranat; Tucker, Abigail S; Ketudat Cairns, James R.
Afiliação
  • Kantaputra P; Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.
  • Guven Y; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
  • Kalayci T; Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
  • Özer PK; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Panyarak W; Istanbul Medical Faculty, Department of Cardiology, Istanbul University, Istanbul, Turkey.
  • Intachai W; Division of Oral and Maxillofacial Radiology, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
  • Olsen B; Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.
  • Carlson BM; Department of Developmental Biology, Harvard School of Dental Medicine, Harvard University, Boston, Massachusetts, USA.
  • Praditsap O; Department of Anatomy and Cell Biology, University of Michigan, Ann Arbor, Michigan, USA.
  • Tongsima S; Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Ngamphiw C; National Biobank of Thailand, National Science and Technology Development Agency, Pathum Thani, Thailand.
  • Jatooratthawichot P; National Biobank of Thailand, National Science and Technology Development Agency, Pathum Thani, Thailand.
  • Tucker AS; School of Chemistry, Institute of Science, Suranaree University of Technology, Nakhon Ratchasima, Thailand.
  • Ketudat Cairns JR; Centre for Craniofacial and Regenerative Biology, King's College London, Guy's Hospital, London, UK.
Clin Genet ; 102(1): 66-71, 2022 07.
Article em En | MEDLINE | ID: mdl-35352826
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 TGFß-LAP-LTBP3 complex formation, and subsequent disruption of TGFß 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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Anormalidades Dentárias / Nanismo / Amelogênese Imperfeita Limite: Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Anormalidades Dentárias / Nanismo / Amelogênese Imperfeita Limite: Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article