EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

  1. Hüffmeier, Ulrike ORCID logo
  2. Kraus, Cornelia
  3. Reuter, Miriam S.
  4. Uebe, Steffen
  5. Abbott, Mary-Alice
  6. Ahmed, Syed A.
  7. Rawson, Kristyn L.
  8. Barr, Eileen
  9. Li, Hong
  10. Bruel, Ange-Line
  11. Faivre, Laurence
  12. Tran Mau-Them, Frédéric
  13. Botti, Christina
  14. Brooks, Susan
  15. Burns, Kaitlyn
  16. Ward, D. Isum
  17. Dutra-Clarke, Marina
  18. Martinez-Agosto, Julian A.
  19. Lee, Hane
  20. Nelson, Stanley F.
  21. Zacher, Pia
  22. Abou Jamra, Rami
  23. Klöckner, Chiara
  24. McGaughran, Julie
  25. Kohlhase, Jürgen
  26. Schuhmann, Sarah
  27. Moran, Ellen
  28. Pappas, John
  29. Raas-Rothschild, Annick
  30. Sacoto, Maria J. Guillen
  31. Henderson, Lindsay B.
  32. Palculict, Timothy Blake
  33. Mullegama, Sureni V.
  34. Zghal Elloumi, Houda
  35. Reich, Adi
  36. Schrier Vergano, Samantha A.
  37. Wahl, Erica
  38. Reis, André
  39. Zweier, Christiane

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1000 Titel
  • EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
1000 Autor/in
  1. Hüffmeier, Ulrike |
  2. Kraus, Cornelia |
  3. Reuter, Miriam S. |
  4. Uebe, Steffen |
  5. Abbott, Mary-Alice |
  6. Ahmed, Syed A. |
  7. Rawson, Kristyn L. |
  8. Barr, Eileen |
  9. Li, Hong |
  10. Bruel, Ange-Line |
  11. Faivre, Laurence |
  12. Tran Mau-Them, Frédéric |
  13. Botti, Christina |
  14. Brooks, Susan |
  15. Burns, Kaitlyn |
  16. Ward, D. Isum |
  17. Dutra-Clarke, Marina |
  18. Martinez-Agosto, Julian A. |
  19. Lee, Hane |
  20. Nelson, Stanley F. |
  21. Zacher, Pia |
  22. Abou Jamra, Rami |
  23. Klöckner, Chiara |
  24. McGaughran, Julie |
  25. Kohlhase, Jürgen |
  26. Schuhmann, Sarah |
  27. Moran, Ellen |
  28. Pappas, John |
  29. Raas-Rothschild, Annick |
  30. Sacoto, Maria J. Guillen |
  31. Henderson, Lindsay B. |
  32. Palculict, Timothy Blake |
  33. Mullegama, Sureni V. |
  34. Zghal Elloumi, Houda |
  35. Reich, Adi |
  36. Schrier Vergano, Samantha A. |
  37. Wahl, Erica |
  38. Reis, André |
  39. Zweier, Christiane |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-03-18
1000 Erschienen in
1000 Quellenangabe
  • 16(1):136
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1186/s13023-021-01744-1 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7977188/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Background!#!An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and molecular spectrum of EIF3F-related neurodevelopmental disorder, we examined independent patients.!##!Results!#!21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behavioral problems, altered muscular tone, hearing loss, and short stature. Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. Minor dysmorphic features were observed, although neither the individuals' facial nor general appearance were obviously distinctive. Symptoms in the compound heterozygous individual with an additional truncating variant were at the severe end of the spectrum in regard to motor milestones, speech delay, organic problems and pre- and postnatal growth of body and head, suggesting some genotype-phenotype correlation.!##!Conclusions!#!Our study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder.
1000 Sacherschließung
lokal Altered muscular tone
lokal Deafness
lokal Behavioral difficulties
lokal Humans [MeSH]
lokal Intellectual Disability/genetics [MeSH]
lokal Medical genetics
lokal Microcephaly [MeSH]
lokal Cleft Lip [MeSH]
lokal Neurodevelopmental Disorders/genetics [MeSH]
lokal Short stature
lokal Cleft Palate [MeSH]
lokal Research
lokal Eukaryotic Initiation Factor-3 [MeSH]
lokal Neurodevelopmental disorder
1000 Liste der Beteiligten
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1000 Erstellt am 2023-11-16T06:33:16.389+0100
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