96
Views
0
CrossRef citations to date
0
Altmetric
Case reports

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra‐Skeletal Organ Involvement

ORCID Icon, , , , , & show all
Pages 209-214 | Received 31 Oct 2023, Accepted 18 Mar 2024, Published online: 23 Mar 2024

References

  • Poyner SE, Bradshaw WT. Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy. Neonatal Network. 2013;32(5):342–352. doi:10.1891/0730-0832.32.5.342
  • Chen LS, Shi SJ, Zou PS, Ma M, Chen XH, Cao DH. Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing. Genet Mol Res. 2016;15(2). doi:10.4238/gmr.15028134
  • Chen W, Li Y, Zhang J, et al. Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly). Front Genet. 2023; 2023:14.
  • Shaheen R, Schmidts M, Faqeih E, et al. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet. 2015;24(5):1410–1419. doi:10.1093/hmg/ddu555
  • Tuz K, Bachmann-Gagescu R, O’Day DR, et al. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2014;94(1):62–72. doi:10.1016/j.ajhg.2013.11.019
  • Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. 2011;155(5):1021–1032. doi:10.1002/ajmg.a.33892
  • Rahemtullah A, Mcgillivray B, Wilson RD. Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome. America J Obs Gyne. 1997;177(4):864–869. doi:10.1016/S0002-9378(97)70284-9
  • Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009;11(2):127–133. doi:10.1097/GIM.0b013e3181971ccb
  • Milks KS, Hill LM, Hosseinzadeh K. Evaluating Skeletal Dysplasias on Prenatal Ultrasound: An Emphasis on Predicting Lethality. Pediatric Radiology. Springer Verlag; 2017:134–145.
  • Asseri AA, Alzoani A, Almazkary AM, et al. Mucopolysaccharidosis type i presenting with persistent neonatal respiratory distress: a case report. Diseases. 2023;11(2):67. doi:10.3390/diseases11020067
  • Blanco F, Elliott S, Sandler A. Management of Congenital Chest Wall Deformities. Semin Plast Surg. 2011;25(01):107–116. doi:10.1055/s-0031-1275177
  • O’toole SJ, Irish MS, Holm BA, Glick PL Congenital diaphragmatic hernia pulmonary vascular abnormalities in congenital diaphragmatic hernia; 2024.
  • Fike CD, Aschner JL. Looking Beyond PPHN: The Unmet Challenge of Chronic Progressive Pulmonary Hypertension in the Newborn. Pulmonary Circulation. Taylor and Francis Inc.; 2013:454–466.
  • Dagoneau N, Goulet M, Geneviève D, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009;84(5):706–711. doi:10.1016/j.ajhg.2009.04.016
  • Feng Q, Gicking A, Hancock WO, et al. Platform: cytoskeletal motors 853-plat dynactin p150 promotes processive motility of ddb complexes by mini-mizing diffusional behavior of dynein; 2024.
  • Markova TV, Vm K, Melchenko EV, et al. Сlinical and genetic characteristics of skeletal cyliopathies – short-rib thoracic dysplasia. Pediatric Trauma Ortho Recons Surg. 2022;10(1):43–56. doi:10.17816/PTORS91116