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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

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Date
2019-08-13
Author
Bayram, Yavuz
Lupski, James R.
Akdemir, Zeynep Coban
Harms, Frederike L.
Kortuem, Fanny
Sutton, V. Reid
Bacino, Carlos A.
Alawi, Malik
Meinecke, Peter
Karaca, Ender
Posey, Jennifer E.
Bostwick, Bret
Liu, Pengfei
Gezdirici, Alper
YEŞİL, GÖZDE
Advisor
Type
Article
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Abstract
Co-occurrence of primordial dwarfism and microcephaly together with particular skeletal findings are seen in a wide range of Mendelian syndromes including microcephaly micromelia syndrome (MMS, OMIM 251230), microcephaly, short stature, and limb abnormalities (MISSLA, OMIM 617604), and microcephalic primordial dwarfisms (MPDs). Genes associated with these syndromes encode proteins that have crucial roles in DNA replication or in other critical steps of the cell cycle that link DNA replication to cell division. We identified four unrelated families with five affected individuals having biallelic or de novo variants in DONSON presenting with a core phenotype of severe short stature (z score T p.(Arg211Cys) variant had clinical features typical of Meier-Gorlin syndrome (MGS), while two siblings with compound heterozygous c.346delG p.(Asp116Ile*62) and c.1349A > G p.(Lys450Arg) variants presented with Seckel-like phenotype. We also identified a de novo c.683G > T p.(Trp228Leu) variant in DONSON in a patient with prominent micrognathia, short stature and hypoplastic femur and tibia, clinically diagnosed with Femoral-Facial syndrome (FFS, OMIM 134780). Biallelic variants in DONSON have been recently described in individuals with microcephalic dwarfism. These studies also demonstrated that DONSON has an essential conserved role in the cell cycle. Here we describe novel biallelic and de novo variants that are associated with MGS, Seckel-like phenotype and FFS, the last of which has not been associated with any disease gene to date.
Subject
Karaca E., Posey J. E. , Bostwick B., Liu P., Gezdirici A., YEŞİL G., Akdemir Z. C. , Bayram Y., Harms F. L. , Meinecke P., et al., -Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities-, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.179, ss.2056-2066, 2019
URI
https://hdl.handle.net/20.500.12645/10403
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  • PubMed İndeksli Yayın Koleksiyonu [3669]
  • Scopus İndeksli Yayınlar Koleksiyonu [4451]
  • Tıp Fakültesi [2546]
  • WoS İndeksli Yayınlar Koleksiyonu [5147]
  • Yayınlar - Eserler [9983]

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BEZMIALEM VAKIF UNIVERSITY

About us |Policies | Library | Contact us | Send Feedback | Sitemap | Admin

Bezmialem Vakıf Üniversitesi, Adnan Menderes Bulvarı Vatan Caddesi 34093 Fatih, İstanbul / TURKEY
Copyright © Bezmialem Vakıf Üniversitesi

Creative Commons Lisansı
Bezmialem Institutional Repository, Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

OpenAccess@BVU

Support by  UNIREPOS