{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T13:37:19Z","timestamp":1793713039890,"version":"4.6.1"},"reference-count":67,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2013,1,21]]},"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      . Genetic heterogeneity and the large\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      gene size have hindered JATD genetic diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims and methods<\/jats:title>\n                    <jats:p>\n                      To determine the contribution to JATD we screened\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results and conclusions<\/jats:title>\n                    <jats:p>\n                      We detected 34\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      mutations in 29\/71 (41%) patients from 19\/57 families (33%), showing it as a major cause of JATD especially in Northern European patients. This included 13 early protein termination mutations (nonsense\/frameshift, deletion, splice site) but no patients carried these in combination, suggesting the human phenotype is at least partly hypomorphic. In addition, 21 missense mutations were distributed across\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      and these showed some clustering to functional domains, especially the ATP motor domain.\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      patients largely lacked significant extra-skeletal involvement, demonstrating an important genotype\u2013phenotype correlation in JATD. Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      alleles and among individuals with different alleles, which suggests the\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      phenotype might be subject to modifier alleles, non-genetic or epigenetic factors. Assessment of fibroblasts from patients showed accumulation of anterograde IFT proteins in the ciliary tips, confirming defects similar to patients with other retrograde IFT machinery mutations, which may be of undervalued potential for diagnostic purposes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmedgenet-2012-101284","type":"journal-article","created":{"date-parts":[[2013,3,2]],"date-time":"2013-03-02T05:01:05Z","timestamp":1362200465000},"page":"309-323","source":"Crossref","is-referenced-by-count":137,"title":["Exome sequencing identifies\n                    <i>DYNC2H1<\/i>\n                    mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement"],"prefix":"10.1136","volume":"50","author":[{"given":"Miriam","family":"Schmidts","sequence":"first","affiliation":[{"name":"Molecular Medicine Unit, Birth Defects Research Centre, University College London (UCL) 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