Clinical variability in XXXX .

@entity8721 @entity5 @entity6389 @entity14050 @entity24147 @entity465 @entity6372 @entity400 @entity74 @entity6447 @entity8684 @entity1129 @entity71845 @entity71846 @entity3519
@entity1129 ( @entity1129 ) is an @entity74 characterized by progressive childhood-onset @entity6447 , @entity24147 , @entity8684 and @entity8721 of the conjunctivae. Further symptoms may be @entity465 and frequent infections, and an increased risk of @entity5 . As well as this classic manifestation, several other non-classic forms exist, including milder or incomplete @entity1129 phenotypes caused by homozygous or compound heterozygous mutations in the @entity14050 gene. Recently, @entity14050 mutations have been found in 13 Canadian Mennonites with early-onset, @entity6389 , in a French family with generalized @entity3519 and in an Indian family with @entity6372 . In this article, we will describe a Turkish family with three affected sibs. Their phenotypes range from pure cervical @entity3519 associated with hand @entity400 to truncal and more generalized dystonic postures. Exome sequencing has revealed the potentially pathogenic compound heterozygous variants @entity71845 and @entity71846 in the @entity14050 gene. The variants segregated perfectly with the phenotypes within the family. Both mutations detected in @entity14050 have been shown to be pathogenic, and the a-fetoprotein, a marker of @entity1129 , was found to be increased. This report supports recent literature showing that @entity14050 mutations are not exclusively associated with @entity1129 but may also cause a more, even intra-familial variable phenotype in particular in association with @entity3519 .
