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A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta
- Source :
- Gene. 545:290-292
- Publication Year :
- 2014
- Publisher :
- Elsevier BV, 2014.
-
Abstract
- 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.
- Subjects :
- DNA Mutational Analysis
Genes, Recessive
Locus (genetics)
Consanguinity
Biology
Ion Channels
Bone morphogenetic protein 1
Exon
Calcium flux
Genetics
medicine
Humans
Child
Sequence Deletion
TMEM38B
Homozygote
AR
SNP array
Exons
General Medicine
Osteogenesis Imperfecta
medicine.disease
Molecular biology
Radiography
Osteogenesis imperfecta
PPIB
Female
Chromosomes, Human, Pair 19
Subjects
Details
- ISSN :
- 03781119
- Volume :
- 545
- Database :
- OpenAIRE
- Journal :
- Gene
- Accession number :
- edsair.doi.dedup.....bbef522dcc49ce2a3f844328ad2da3be