Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation
Copyright policy )Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation
Mental retardation (MR) is characterized by cognitive impairment with an IQ A) in a published family with nonsyndromic MR, MRX13. This change occurs in a highly conserved amino acid, with proline (P) being substituted by threonine (T) (p.P554T). [corrected] Functional analysis shows that this amino-acid substitution compromises both tri- and didemethylase activity of the JARID1C protein. We conclude that the two novel changes impair JARID1C protein function and are disease-causing mutations in these families.
- Boston Children's Hospital United States
- University of Newcastle Australia Australia
- Prince of Songkla University Thailand
- Wellcome Sanger Institute United Kingdom
- Women's and Children's Hospital Australia
Electrophoresis, Agar Gel, Histone Demethylases, Male, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, DNA Mutational Analysis, Molecular Sequence Data, JmjC domain, Oxidoreductases, N-Demethylating, Methylation, Pedigree, JARID1C, X-linked mental retardation, Histones, Mutation, Humans, Female, Mutant Proteins, Amino Acid Sequence, mutation analysis, Genetic Association Studies
Electrophoresis, Agar Gel, Histone Demethylases, Male, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, DNA Mutational Analysis, Molecular Sequence Data, JmjC domain, Oxidoreductases, N-Demethylating, Methylation, Pedigree, JARID1C, X-linked mental retardation, Histones, Mutation, Humans, Female, Mutant Proteins, Amino Acid Sequence, mutation analysis, Genetic Association Studies
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