A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.
Gene
; 545(2): 290-2, 2014 Jul 25.
Article
em En
| MEDLINE
| ID: mdl-24835313
Osteogenesis imperfecta (OI) is a hereditary bone disease characterized by decreased bone density and multiple fractures, usually inherited in an autosomal dominant manner. Several gene encoding proteins related to collagen metabolism have been described in some cases of autosomal recessive OI (including CRTAP, LEPRE1, PPIB, FKBP65, SERPINF1, BMP1, WNT1, FKBP10). Recently, TMEM38B, a gene that encodes TRIC-B, a monovalent cation-specific channel involved in calcium flux from intracellular stores and in cell differentiation, has been associated with autosomal recessive OI. Here, we describe the second deletion-mutation involving the TMEM38B gene in an 11 year-old Albanian female with a clinical phenotype of OI, born to parents with suspected consanguinity. SNP array analysis revealed a homozygous region larger than 2 Mb that overlapped with the TMEM38B locus and was characterized by a 35 kb homozygous deletion involving exons 1 and 2 of TMEM38B gene.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteogênese Imperfeita
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Deleção de Sequência
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Genes Recessivos
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Canais Iônicos
Tipo de estudo:
Diagnostic_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article