A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.
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.
University of Trieste, Trieste, Italy. Electronic address: elisa.rubinato@burlo.trieste.it.
Elisa
E
Rubinato
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Anna
A
Morgan
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Angela
A
D'Eustacchio
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Vanna
V
Pecile
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Giulia
G
Gortani
University of Trieste, Trieste, Italy; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Paolo
P
Gasparini
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Flavio
F
Faletra
D002648:Child; D002888:Chromosomes, Human, Pair 19; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D017384:Sequence Deletion
D007473:Ion Channels; C578840:TMEM38B protein, human
AR; Homozygous deletion; OI; SNP array; TMEM38B