TY - JOUR
T1 - A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta
AU - Rubinato, Elisa
AU - Morgan, Anna
AU - D'Eustacchio, Angela
AU - Pecile, Vanna
AU - Gortani, Giulia
AU - Gasparini, Paolo
AU - Faletra, Flavio
PY - 2014/7/25
Y1 - 2014/7/25
N2 - 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.
AB - 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.
KW - AR
KW - Homozygous deletion
KW - OI
KW - SNP array
KW - TMEM38B
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U2 - 10.1016/j.gene.2014.05.028
DO - 10.1016/j.gene.2014.05.028
M3 - Article
C2 - 24835313
AN - SCOPUS:84901633705
VL - 545
SP - 290
EP - 292
JO - Gene
JF - Gene
SN - 0378-1119
IS - 2
ER -