Literature DB >> 20946018

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

Fleur S van Dijk1, Peter G J Nikkels, Nicolette S den Hollander, Isabel M Nesbitt, Rick R van Rijn, Jan M Cobben, Gerard Pals.   

Abstract

We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1 -associated OI is indistinguishable from COL1A1/2 -, CRTAP -, and PPIB -related OI.

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Year:  2010        PMID： 20946018     DOI： 10.2350/10-03-0806-CR.1

Source DB:  PubMed          Journal:  Pediatr Dev Pathol        ISSN： 1093-5266


  7 in total

1.  Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.

Authors:  Nadja Fratzl-Zelman; Aileen M Barnes; MaryAnn Weis; Erin Carter; Theresa E Hefferan; Giorgio Perino; Weizhong Chang; Peter A Smith; Paul Roschger; Klaus Klaushofer; Francis H Glorieux; David R Eyre; Cathleen Raggio; Frank Rauch; Joan C Marini
Journal:  J Clin Endocrinol Metab       Date:  2016-07-06       Impact factor: 5.958

2.  Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

Authors:  Sofie Symoens; Aileen M Barnes; Charlotte Gistelinck; Fransiska Malfait; Brecht Guillemyn; Wouter Steyaert; Delfien Syx; Sanne D'hondt; Martine Biervliet; Julie De Backer; Eckhard P Witten; Sergey Leikin; Elena Makareeva; Gabriele Gillessen-Kaesbach; Ann Huysseune; Kris Vleminckx; Andy Willaert; Anne De Paepe; Joan C Marini; Paul J Coucke
Journal:  Am J Hum Genet       Date:  2015-09-10       Impact factor: 11.025

3.  Osteogenesis Imperfecta: A Review with Clinical Examples.

Authors:  F S van Dijk; J M Cobben; A Kariminejad; A Maugeri; P G J Nikkels; R R van Rijn; G Pals
Journal:  Mol Syndromol       Date:  2011-10-12

4.  A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

Authors:  Masaki Takagi; Tomohiro Ishii; Aileen M Barnes; Maryann Weis; Naoko Amano; Mamoru Tanaka; Ryuji Fukuzawa; Gen Nishimura; David R Eyre; Joan C Marini; Tomonobu Hasegawa
Journal:  PLoS One       Date:  2012-05-15       Impact factor: 3.240

5.  Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.

Authors:  Sofie Symoens; Fransiska Malfait; Sanne D'hondt; Bert Callewaert; Annelies Dheedene; Wouter Steyaert; Hans Peter Bächinger; Anne De Paepe; Hulya Kayserili; Paul J Coucke
Journal:  Orphanet J Rare Dis       Date:  2013-09-30       Impact factor: 4.123

6.  Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations.

Authors:  Joseph P Pillion; David Vernick; Jay Shapiro
Journal:  Genet Res Int       Date:  2011-12-14

7.  Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.

Authors:  Lidiia Zhytnik; Binh Ho Duy; Marelise Eekhoff; Lisanne Wisse; Gerard Pals; Ene Reimann; Sulev Kõks; Aare Märtson; Alessandra Maugeri; Katre Maasalu; Dimitra Micha
Journal:  Genes (Basel)       Date:  2022-02-24       Impact factor: 4.141
  7 in total

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