A Novel Homozygous XXXX Mutation in Two Italian Siblings and a Review of Literature.

@entity1 @entity417 @entity12130 @entity71490 @entity8193 @entity669 @entity121
UNASSIGNED: @entity71490 encodes the mitochondrial tyrosyl-tRNA synthetase that catalyzes the covalent binding of @entity669 to its cognate mt-tRNA. Mutations in @entity71490 have been identified in @entity1 with @entity121 , @entity8193 , and @entity417 (MLASA2). We report here on two siblings with a novel mutation and a review of literature. The older @entity1 presented at 2  months with marked @entity417 and @entity12130 . He required periodic blood transfusions until 14 months of age. Cognitive and motor development was normal. His younger sister was diagnosed at birth, presenting with @entity417 and @entity8193 at 1 month of age requiring periodical transfusions. She is now 14 months old and doing well. For both our @entity1 , there was no clinical evidence of muscle involvement. We found a new homozygous mutation in @entity71490 , located in the a-anticodon-binding (aACB) domain, involved in the interaction with the anticodon of the cognate mt-tRNA(Tyr).Our study confirms that MLASA must be considered in @entity1 with @entity417 and underlines the importance of early diagnosis and supportive therapy in order to prevent severe complications. Clinical severity is variable among @entity71490 -reported @entity1 : our review of the literature suggests a possible phenotype-genotype correlation, although this should be confirmed in a larger population.
