The aim of this study was to identify the genetic basis of a @entity6519 with @entity1714 of unknown origin in a @entity1 of a consanguineous marriage. The proband and ten family members of Iranian ancestry participated in this study. Linkage analysis was carried out with DNA samples of the proband and her parents by using the @entity1 SNP Array 6.0. Whole exome sequencing (WES) was performed with the @entity1 ' DNA. Specific sequence alterations within the homozygous regions identified by whole exome sequencing were verified by Sanger sequencing. Upon genetic analysis, a novel homozygous frameshift mutation was found in exon 42 of the @entity10120 gene in the @entity1 . Both parents were heterozygous for this sequence variation. Mutations in @entity10120 are known to cause @entity49465 ( @entity49465 ). Retrospective analysis of clinical records of the @entity1 revealed surgical removal of a meningocele present at birth. The clinical features shown by our @entity1 were typical of @entity49465 with the exception of @entity528 which is a rare manifestation. This is the first case of @entity49465 reported in a family of Iranian ancestry. We identified a novel disease-causing (deletion) mutation in the @entity10120 gene leading to a frameshift and premature stop codon in the last exon. The mutation was not present in SNP databases and was also not found in 192 control individuals. Its localization within the @entity10120 domain implicates a functional relevance of @entity10120 in @entity49465 . A combined approach of linkage analysis and WES led to a rapid identification of the disease-causing mutation even though the clinical description was not completely clear at the beginning.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous @entity10120 mutation causing XXXX .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient', 'Human', 'child'] @entity49465 :: ('MESH:C537209', 'Disease') :: ['Knobloch syndrome', 'KS'] @entity10120 :: ('80781', 'Gene') :: ['endostatin', 'COL18A1'] @entity6519 :: ('MESH:D002825', 'Disease') :: ['chorioretinal dystrophy'] @entity528 :: ('MESH:D009410', 'Disease') :: ['chorioretinal degeneration'] @entity1714 :: ('MESH:D009216', 'Disease') :: ['high myopia']
@entity49465 :: (MESH:C537209,Disease) :: ['Knobloch syndrome']
