AI Article Synopsis
- - Autosomal recessive osteogenesis imperfecta (OI) was found in three unrelated Israeli Bedouin families, all showing fractures during infancy.
- - Researchers performed genome-wide analysis and discovered a common homozygous region on chromosome 9 among affected individuals, but identified no known OI gene mutations.
- - Whole exome sequencing revealed a specific deletion in the TMEM38B gene, which impacts the protein responsible for calcium release in cells, although the exact mechanisms linking this mutation to OI are still unknown.
Article Abstract
Autosomal recessive osteogenesis imperfecta (OI) was diagnosed in three unrelated Israeli Bedouin consanguineous families. Fractures were evident in all cases in infancy. Genome-wide linkage analysis ruled out association with any of the known OI genes, and identified a single homozygosity locus of approximately 2 Mb on chromosome 9 common to all affected individuals (maximum multipoint lod score 6.5). Whole exome sequencing identified only a single mutation within this locus that was shared by all affected individuals: a homozygous deletion mutation of exon 4 of TMEM38B, leading to an early stop codon and a truncated protein, as well as low TMEM38B mRNA levels. TMEM38B encodes TRIC-B, a ubiquitous component of TRIC, a monovalent cation-specific channel involved in Ca(2+) release from intracellular stores that has been shown to act in cell differentiation. Molecular mechanisms through which a TMEM38B mutation might lead to an OI phenotype are yet to be explored.
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| http://dx.doi.org/10.1002/humu.22274 | DOI Listing |
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