Literature DB >> 19938095

Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients.

Luis C Morales1, Gonzalo Arboleda, Yeldy Rodríguez, Diego A Forero, Nelson Ramírez, Juan J Yunis, Humberto Arboleda.   

Abstract

The Wiedemann-Rautenstrauch syndrome (WRS, OMIM: 264090) characterizes a premature aging syndrome in which several features of aging are apparent at birth. We did not find mutations in Lamin A/C (LMNA) gene in four WRS patients, and in particular, we did not find the G608G mutation (GGC > GGT transition) which is associated with most cases with Hutchinson-Gilford progeria (OMIM 176670). These findings suggest that WRS represents a distinct progeroid entity that may be caused by recessive mutations of a different gene.

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Year:  2009        PMID: 19938095     DOI: 10.1002/ajmg.a.33090

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  5 in total

1.  Development of Novel High-Resolution Melting-Based Assays for Genotyping Two Alu Insertion Polymorphisms (FXIIIB and PV92).

Authors:  Yeimy González-Giraldo; Marisol Rodríguez-Dueñas; Diego A Forero
Journal:  Mol Biotechnol       Date:  2016-03       Impact factor: 2.695

2.  Relative telomere length is associated with a functional polymorphism in the monoamine oxidase A gene in a South American sample.

Authors:  César A Speck-Hernández; Diego A Ojeda; Luis J Castro-Vega; Diego A Forero
Journal:  J Genet       Date:  2015-06       Impact factor: 1.166

3.  Wiedemann-Rautenstrauch syndrome prenatal diagnosis.

Authors:  C H Becerra; G A Contreras-García; L A Perez Vera; L A Díaz-Martínez; M A Beltran Avendaño; H A Salazar Martínez
Journal:  J Perinatol       Date:  2014-12       Impact factor: 2.521

4.  Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.

Authors:  Stefanie Perrier; Laurence Gauquelin; Jennifer A Wambach; Geneviève Bernard
Journal:  Am J Med Genet A       Date:  2021-11-12       Impact factor: 2.802

5.  No Association of BDNF, COMT, MAOA, SLC6A3, and SLC6A4 Genes and Depressive Symptoms in a Sample of Healthy Colombian Subjects.

Authors:  Yeimy González-Giraldo; Andrés Camargo; Sandra López-León; Diego A Forero
Journal:  Depress Res Treat       Date:  2015-10-08
  5 in total

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