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Article detail · 2014

Genetic heterogeneity in Cornelia de Lange syndrome CdLS and CdLS like phenotypes with observed and predicted levels of mosaicism

Journal

Journal of Medical Genetics

ISSN 0022-2593

YÖKSİS OpenAlex Open access · hybrid SJR Q1 JCR Q1 Citations 172 Top 10% Percentile 97.8% FWCI 6.84
Year
2014
DOI
10.1136/jmedgenet-2014-102573
Type
article

Data source split

  • YÖKSİS YÖKSİS article record
  • YÖKSİS venue Journal of Medical Genetics
  • Catalog match (ISSN) Journal of Medical Genetics
  • OpenAlex OpenAlex enrichment (abstract, citations, topics)

OpenAlex record

Abstract

OpenAlex · English

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS. METHODS: We screened 163 affected individuals for coding region mutations in the known genes, 90 for genomic rearrangements, 19 for deep intronic variants in NIPBL and 5 had whole-exome sequencing. RESULTS: Pathogenic mutations [including mosaic changes] were identified in: NIPBL 46 [3] (28.2%); SMC1A 5 [1] (3.1%); SMC3 5 [1] (3.1%); HDAC8 6 [0] (3.6%) and RAD21 1 [0] (0.6%). One individual had a de novo 1.3 Mb deletion of 1p36.3. Another had a 520 kb duplication of 12q13.13 encompassing ESPL1, encoding separase, an enzyme that cleaves the cohesin ring. Three de novo mutations were identified in ANKRD11 demonstrating a phenotypic overlap with KBG syndrome. To estimate the number of undetected mosaic cases we used recursive partitioning to identify discriminating features in the NIPBL-positive subgroup. Filtering of the mutation-negative group on these features classified at least 18% as 'NIPBL-like'. A computer composition of the average face of this NIPBL-like subgroup was also more typical in appearance than that of all others in the mutation-negative group supporting the existence of undetected mosaic cases. CONCLUSIONS: Future diagnostic testing in 'mutation-negative' CdLS thus merits deeper sequencing of multiple DNA samples derived from different tissues.

Topics

Citations

OpenAlex cited_by_count. Not a WoS or Scopus citation count; those sources have no separate column here.

172 citations

OpenAlex cited_by_count (cache / database)

8 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).

  1. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes 2015 Citations 162 · OpenAlex
  2. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes 2015 Citations 162 · OpenAlex
  3. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes 2015 Citations 162 · OpenAlex
  4. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes 2015 Citations 160 · OpenAlex
  5. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes 2015 Citations 160 · OpenAlex
  6. Cohesin complex-associated holoprosencephaly 2019 Citations 65 · OpenAlex
  7. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 2020 Citations 40 · OpenAlex
  8. Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant 2025 Citations 1 · OpenAlex

Authors

  1. Ansari M.
  2. Poke G.
  3. Ferry Q.
  4. Williamson K.
  5. Aldridge R.
  6. Meynert A. M.
  7. Bengani H.
  8. Chan C. Y.
  9. Kayserili H.
  10. Avci ahin
  11. Hennekam R. C. M.
  12. Lampe A. K.
  13. Redeker E.
  14. Homfray T.
  15. Ross A.
  16. Falkenberg Smeland M.
  17. Mansour S.
  18. Parker M. J.
  19. Cook J. A.
  20. Splitt M.
  21. Fisher R. B.
  22. Fryer A.
  23. Magee A. C.
  24. Wilkie A.
  25. Barnicoat A.
  26. Brady A. F.
  27. Cooper N. S.
  28. Mercer C.
  29. Deshpande C.
  30. Bennett C. P.
  31. Pilz D. T.
  32. Ruddy D.
  33. Cilliers D.
  34. Johnson D. S.
  35. Josifova D.
  36. Rosser E.
  37. Thompson E. M.
  38. Wakeling E.
  39. Kinning E.
  40. Stewart F.
  41. Flinter F.
  42. Girisha K. M.
  43. Cox H.
  44. Firth H. V.
  45. Kingston H.
  46. Wee J. S.
  47. Hurst J. A.
  48. Clayton-Smith J.
  49. Tolmie J.
  50. Vogt J.
  51. Tatton-Brown K.
  52. Chandler K.
  53. Prescott K.
  54. Wilson L.
  55. Behnam M.
  56. McEntagart M.
  57. Davidson R.
  58. Lynch S.-A.
  59. Sisodiya S.
  60. Mehta S. G.
  61. McKee S. A.
  62. Mohammed S.
  63. Holden S.
  64. Park S.-M.
  65. Holder S. E.
  66. Harrison V.
  67. McConnell V.
  68. Lam W. K.
  69. Green A. J.
  70. Donnai D.
  71. Bitner-Glindzicz M.
  72. Donnelly D. E.
  73. Nellaker C.
  74. Taylor M. S.
  75. FitzPatrick D. R.
  76. HÜLYA KAYSERİLİ KARABEY KOÇ ÜNİVERSİTESİ