Literature DB >> 10076884

Five familial cases of opsismodysplasia substantiate the hypothesis of autosomal recessive inheritance.

K Tyler1, N Sarioglu, J Kunze.   

Abstract

We describe a family with two marriages of first cousins and a total of five children with opsismodysplasia. The diagnosis was based on clinical, radiological, and immunhistochemical findings. Helpful to the diagnosis was the testing with type I collagen antibodies, showing abnormally high levels in the hypertrophic area of growth cartilage. This observation supports the hypothesis of autosomal recessive transmission of opsismodysplasia.

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10076884     DOI： 10.1002/(sici)1096-8628(19990305)83:1<47::aid-ajmg9>3.0.co;2-5

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

1.  Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Authors:  Bing Li; Deborah Krakow; Deborah A Nickerson; Michael J Bamshad; Yong Chang; Ralph S Lachman; Alev Yilmaz; Hülya Kayserili; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2014-06-20       Impact factor: 2.802

Review 2.  INPPL1 gene mutations in opsismodysplasia.

Authors:  Anaïs Fradet; Jamie Fitzgerald
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172

3.  Opsismodysplasia.

Authors:  Leslie Edward S Lewis; Y Ramesh Bhat; Prashant Naik; Kanchan Sethi; K M Girisha
Journal:  Indian J Pediatr       Date:  2010-03-19       Impact factor: 1.967

4.  Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Authors:  Jennifer E Below; Dawn L Earl; Kathryn M Shively; Margaret J McMillin; Joshua D Smith; Emily H Turner; Mark J Stephan; Lihadh I Al-Gazali; Jozef L Hertecant; David Chitayat; Sheila Unger; Daniel H Cohn; Deborah Krakow; James M Swanson; Elaine M Faustman; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2012-12-27       Impact factor: 11.025

5.  Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.

Authors:  Ansab Khwaja; Shawn E Parnell; Kathryn Ness; Viviana Bompadre; Klane K White
Journal:  Front Pediatr       Date:  2015-06-22       Impact factor: 3.418

6.  Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

Authors:  Iman Sabri Abumansour; Radiah Mahmoud Iskandarani; Alaa Edrees; Farrukh Javed; Fadwah Taher; Ghaidaa Farouk Hakeem
Journal:  Clin Case Rep       Date:  2021-05-28
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.