Literature DB >> 8484415

New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers.

C Borrone1, M Di Rocco, F Crovato, G Camera, C Gambini.   

Abstract

We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, "coarse" face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.

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Year:  1993        PMID: 8484415     DOI: 10.1002/ajmg.1320460225

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


  7 in total

Review 1.  Invadosomes are coming: new insights into function and disease relevance.

Authors:  Elyse K Paterson; Sara A Courtneidge
Journal:  FEBS J       Date:  2017-06-22       Impact factor: 5.542

2.  The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome.

Authors:  Ivo J H M de Vos; Arnette Shi Wei Wong; Jason Taslim; Sheena Li Ming Ong; Nicole C Syder; Julian L Goggi; Thomas J Carney; Maurice A M van Steensel
Journal:  Biol Open       Date:  2020-12-29       Impact factor: 2.422

3.  The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.

Authors:  Salam Massadeh; Fahad Alhabshan; Hadeel N AlSudairi; Sarah Alkwai; Moneera Alsuwailm; Mohamed S Kabbani; Farah Chaikhouni; Manal Alaamery
Journal:  Genes (Basel)       Date:  2022-01-27       Impact factor: 4.096

4.  Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Authors:  Gabrielle R Wilson; Jasmine Sunley; Katherine R Smith; Kate Pope; Catherine J Bromhead; Elizabeth Fitzpatrick; Maja Di Rocco; Maurice van Steensel; David J Coman; Richard J Leventer; Martin B Delatycki; David J Amor; Melanie Bahlo; Paul J Lockhart
Journal:  Eur J Hum Genet       Date:  2013-10-09       Impact factor: 4.246

5.  Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Authors:  Ivo J H M de Vos; Evelyn Yaqiong Tao; Sheena Li Ming Ong; Julian L Goggi; Thomas Scerri; Gabrielle R Wilson; Chernis Guai Mun Low; Arnette Shi Wei Wong; Dominic Grussu; Alexander P A Stegmann; Michel van Geel; Renske Janssen; David J Amor; Melanie Bahlo; Norris R Dunn; Thomas J Carney; Paul J Lockhart; Barry J Coull; Maurice A M van Steensel
Journal:  Hum Mol Genet       Date:  2018-08-15       Impact factor: 6.150

6.  Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations.

Authors:  Hanan Elsebaie; Mohamed Abdelhafiz Mansour; Solaf M Elsayed; Shady Mahmoud; Tamer A El-Sobky
Journal:  Bone Rep       Date:  2021-07-10

7.  Mitral Valve Prolapse and Its Motley Crew-Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition.

Authors:  Jordan E Morningstar; Annah Nieman; Christina Wang; Tyler Beck; Andrew Harvey; Russell A Norris
Journal:  J Am Heart Assoc       Date:  2021-06-22       Impact factor: 5.501

  7 in total

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