Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations
| Autor: | Samia A. Temtamy, Mona Aglan, José A. Caparrós-Martín, Victor L. Ruiz-Perez, Chantal Farra, María Valencia, Khalda Amr, Pablo Lapunzina, Veronica Pulido, Victor Martinez-Glez, Inmaculada Rueda-Arenas |
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| Přispěvatelé: | Centro de Investigación Biomédica en Red Enfermedades Raras (España), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España) |
| Rok vydání: | 2013 |
| Předmět: |
Male
Adolescent Molecular Sequence Data Genes Recessive Biology medicine.disease_cause Collagen Type I Prolyl Hydroxylases Tacrolimus Binding Proteins Cyclophilins Young Adult Exon Alu Elements Locus heterogeneity Genotype Genetics medicine Humans Nerve Growth Factors Child Eye Proteins Gene Genetic Association Studies Serpins Genetics (clinical) Extracellular Matrix Proteins Mutation Membrane Glycoproteins Diphosphonates Infant Sequence Analysis DNA Osteogenesis Imperfecta medicine.disease Phenotype Pedigree Radiography Osteogenesis imperfecta Child Preschool Female Proteoglycans Bruck syndrome Molecular Chaperones |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| ISSN: | 1552-4825 |
| Popis: | et al. Autosomal recessive osteogenesis imperfecta (AR-OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performed clinical assessment and sought mutations in patients from 10 unrelated families with AR-OI, one of whom was presented with the additional features of Bruck syndrome (BS). Pathogenic changes were identified in five different genes: three families had mutations in FKBP10, three in SERPINF1, two in LEPRE1, one in CRTAP, and one in PPIB. With the exception of a FKBP10 mutation in the BS case, all changes are novel. Of note, insertion of an AluYb8 repetitive element was detected in exon 6 of SERPINF1. Since the studied patients had variable manifestations and some distinctive features, genotype/phenotype correlations are suggested. Funded by: Spanish Ministry of Science and Innovation. Grant Number: SAF2010-17901and Centro de Investigación Biomédica en Red de Enfermedades Raras (Programa de Investigación de Enfermedades Pediátricas and ACCI 2012). |
| Databáze: | OpenAIRE |
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