Literature DB >> 26860060

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

Eberhard Passarge1,2, Peter N Robinson3, Luitgard M Graul-Neumann4.   

Abstract

We review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in exon 64 of the FBN1 gene. A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and clinical features of lipodystrophy was present in all individuals. We suggest that this previously unknown genotype/phenotype relationship constitutes a new fibrillinopathy for which the name marfanoid-progeroid-lipodystrophy syndrome would be appropriate.

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Year:  2016        PMID： 26860060      PMCID： PMC4989216          DOI： 10.1038/ejhg.2016.6

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  19 in total

1.  One more piece in the fibrillin puzzle.

Authors:  Dirk Hubmacher; Dieter P Reinhardt
Journal:  Structure       Date:  2009-05-13       Impact factor: 5.006

2.  Revised diagnostic criteria for the Marfan syndrome.

Authors:  A De Paepe; R B Devereux; H C Dietz; R C Hennekam; R E Pyeritz
Journal:  Am J Med Genet       Date:  1996-04-24

Review 3.  The molecular genetics of Marfan syndrome and related disorders.

Authors:  P N Robinson; E Arteaga-Solis; C Baldock; G Collod-Béroud; P Booms; A De Paepe; H C Dietz; G Guo; P A Handford; D P Judge; C M Kielty; B Loeys; D M Milewicz; A Ney; F Ramirez; D P Reinhardt; K Tiedemann; P Whiteman; M Godfrey
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

Review 4.  Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Authors:  Gwenaëlle Collod-Béroud; Saga Le Bourdelles; Lesley Ades; Leena Ala-Kokko; Patrick Booms; Maureen Boxer; Anne Child; Paolo Comeglio; Anne De Paepe; James C Hyland; Katerine Holman; Ilkka Kaitila; Bart Loeys; Gabor Matyas; Lieve Nuytinck; Leena Peltonen; Terhi Rantamaki; Peter Robinson; Beat Steinmann; Claudine Junien; Christophe Béroud; Catherine Boileau
Journal:  Hum Mutat       Date:  2003-09       Impact factor: 4.878

5.  Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Authors:  L Faivre; G Collod-Beroud; B L Loeys; A Child; C Binquet; E Gautier; B Callewaert; E Arbustini; K Mayer; M Arslan-Kirchner; A Kiotsekoglou; P Comeglio; N Marziliano; H C Dietz; D Halliday; C Beroud; C Bonithon-Kopp; M Claustres; C Muti; H Plauchu; P N Robinson; L C Adès; A Biggin; B Benetts; M Brett; K J Holman; J De Backer; P Coucke; U Francke; A De Paepe; G Jondeau; C Boileau
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

6.  Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

Authors:  Toshiki Takenouchi; Mariko Hida; Yoshiaki Sakamoto; Chiharu Torii; Rika Kosaki; Takao Takahashi; Kenjiro Kosaki
Journal:  Am J Med Genet A       Date:  2013-08-16       Impact factor: 2.802

7.  Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

Authors:  Iris Schrijver; Wanguo Liu; Raanan Odom; Thomas Brenn; Peter Oefner; Heinz Furthmayr; Uta Francke
Journal:  Am J Hum Genet       Date:  2002-06-14       Impact factor: 11.025

8.  Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix.

Authors:  M Raghunath; E A Putnam; T Ritty; D Hamstra; E S Park; M Tschödrich-Rotter; R Peters; A Rehemtulla; D M Milewicz
Journal:  J Cell Sci       Date:  1999-04       Impact factor: 5.285

9.  Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition.

Authors:  Chantal Stheneur; Florence Tubach; Marlène Jouneaux; Carine Roy; Gregoire Benoist; Bertrand Chevallier; Catherine Boileau; Guillaume Jondeau
Journal:  Genet Med       Date:  2013-09-05       Impact factor: 8.822

Review 10.  Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases.

Authors:  Margaret R Davis; Kim M Summers
Journal:  Mol Genet Metab       Date:  2012-08-03       Impact factor: 4.797
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  9 in total

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Review 2.  Elastic Fibre Proteins in Elastogenesis and Wound Healing.

Authors:  Xinyang Zhang; Yasmene F Alanazi; Thomas A Jowitt; Alan M Roseman; Clair Baldock
Journal:  Int J Mol Sci       Date:  2022-04-07       Impact factor: 6.208

3.  Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Authors:  Davor Lessel; Ayse Bilge Ozel; Susan E Campbell; Abdelkrim Saadi; Martin F Arlt; Keisha Melodi McSweeney; Vasilica Plaiasu; Katalin Szakszon; Anna Szőllős; Cristina Rusu; Armando J Rojas; Jaime Lopez-Valdez; Holger Thiele; Peter Nürnberg; Deborah A Nickerson; Michael J Bamshad; Jun Z Li; Christian Kubisch; Thomas W Glover; Leslie B Gordon
Journal:  Hum Genet       Date:  2018-11-19       Impact factor: 4.132

Review 4.  Mutations Involved in Premature-Ageing Syndromes.

Authors:  Fabio Coppedè
Journal:  Appl Clin Genet       Date:  2021-06-02

5.  Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit.

Authors:  Mao Chen; Bing Yao; Qiangbing Yang; Jichao Deng; Yuning Song; Tingting Sui; Lina Zhou; HaoBing Yao; Yuanyuan Xu; Hongsheng Ouyang; Daxin Pang; Zhanjun Li; Liangxue Lai
Journal:  Dis Model Mech       Date:  2018-04-09       Impact factor: 5.758

6.  Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Authors:  Mao Lin; Zhenlei Liu; Gang Liu; Sen Zhao; Chao Li; Weisheng Chen; Zeynep Coban Akdemir; Jiachen Lin; Xiaofei Song; Shengru Wang; Qiming Xu; Yanxue Zhao; Lianlei Wang; Yuanqiang Zhang; Zihui Yan; Sen Liu; Jiaqi Liu; Yixin Chen; Yuzhi Zuo; Xu Yang; Tianshu Sun; Xin-Zhuang Yang; Yuchen Niu; Xiaoxin Li; Wesley You; Bintao Qiu; Chen Ding; Pengfei Liu; Shuyang Zhang; Claudia M B Carvalho; Jennifer E Posey; Guixing Qiu; James R Lupski; Zhihong Wu; Jianguo Zhang; Nan Wu
Journal:  Mol Genet Genomic Med       Date:  2019-11-27       Impact factor: 2.183

Review 7.  Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance.

Authors:  Ze-Xu Chen; Wan-Nan Jia; Yong-Xiang Jiang
Journal:  Front Genet       Date:  2022-08-16       Impact factor: 4.772

Review 8.  Fell-Muir Lecture: Fibrillin microfibrils: structural tensometers of elastic tissues?

Authors:  Cay M Kielty
Journal:  Int J Exp Pathol       Date:  2017-09-14       Impact factor: 1.925

9.  LipoDDx: a mobile application for identification of rare lipodystrophy syndromes.

Authors:  David Araújo-Vilar; Antía Fernández-Pombo; Gemma Rodríguez-Carnero; Miguel Ángel Martínez-Olmos; Ana Cantón; Rocío Villar-Taibo; Álvaro Hermida-Ameijeiras; Alicia Santamaría-Nieto; Carmen Díaz-Ortega; Carmen Martínez-Rey; Antonio Antela; Elena Losada; Andrés E Muy-Pérez; Blanca González-Méndez; Sofía Sánchez-Iglesias
Journal:  Orphanet J Rare Dis       Date:  2020-04-02       Impact factor: 4.123
  9 in total

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