@entity6926 ( @entity6926 ) is a spectrum of @entity74 with decreased bone density and @entity79 . Most of the cases of @entity6926 are inherited in autosomal dominant fashion with mutations in @entity13239 or @entity4173 genes. Over last few years, twelve genes for @entity74 have been identified. In this study we have evaluated seven @entity1 with @entity6926 from consanguineous Indian families. Homozygosity mapping using SNP microarray was done and selected candidate genes were sequenced. Candidate genes were identified in four out of seven @entity1 studied. Four mutations, namely; a homozygous non-sense (p.Q178*) and a deletion ( @entity68422 ) mutations in @entity32704 gene, a missense mutation ( @entity68423 ) in @entity17319 gene and a nonsense mutation ( @entity68424 ) in @entity25640 gene were identified. In three @entity1 for whom the regions of homozygosity did not reveal any known @entity74 genes, exome sequencing was performed and we identified a known missense mutation ( @entity68425 ) in @entity4173 gene in one of the @entity1 . As @entity18142 gene was not properly covered in exome sequencing in one @entity1 , the gene was sequenced and a homozygous in-frame deletion of four @entity1522 ( @entity68426 ) was identified. In one of the three cases the exome sequencing did not reveal a mutation in any known @entity6926 genes, suggesting the possibility of mutations in an unidentified gene. The phenotypes of all the cases are described. This work proves the power of homozygosity mapping followed by candidate gene sequencing approach for clinical application in consanguineous families.

Mutations in XXXX with osteogenesis imperfecta from consanguineous Indian families.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity25640 :: ('10491', 'Gene') :: ['CRTAP'] @entity1522 :: ('CHEBI:33709', 'Chemical') :: ['amino acids'] @entity18142 :: ('7471', 'Gene') :: ['WNT1'] @entity4173 :: ('1278', 'Gene') :: ['COL1A2'] @entity68424 :: ('p|E|45|', 'ProteinMutation') :: ['p.E45*'] @entity13239 :: ('1277', 'Gene') :: ['COL1A1'] @entity68422 :: ('p|DEL|277|F', 'ProteinMutation') :: ['p.F277del'] @entity79 :: ('MESH:D001847', 'Disease') :: ['bone fragility'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic disorders', 'autosomal recessive OI'] @entity68423 :: ('p|SUB|M|101|K', 'ProteinMutation') :: ['p.M101K'] @entity68425 :: ('p|SUB|G|1012|S', 'ProteinMutation') :: ['p.G1012S'] @entity32704 :: ('5176', 'Gene') :: ['SERPINF1'] @entity17319 :: ('5479', 'Gene') :: ['PPIB'] @entity6926 :: ('MESH:D010013', 'Disease') :: ['OI', 'Osteogenesis imperfecta'] @entity68426 :: ('p|DEL|176,179|', 'ProteinMutation') :: ['p.Phe176_Leu179del']
@entity1 :: (9606,Species) :: ['patients']
