1 Matching Annotations
  1. Oct 2022
    1. index patient

      Case#: Index patient, 6 years old (age at report), caucasian, male

      DiseaseAssertion: Creatine transporter deficiency

      FamilyInfo: Mother and maternal grandmother have history of learning disabilities, severely retarded uncle, unnaffected aunt

      CasePresentingHPOs: HP:0001290 , HP:0006863, HP:0000750, HP:0001256 (Hypotonia, severe expressive language delay, severe speech delay, mild mental retardation)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: Increased creatine levels in urine and plasma

      Brain Magnetic Resonance Spectroscopy (MRS): Brain proton MRS revealed an almost complete absence of the creatine signal.

      Creatine uptake assay: Creatine uptake was measured in total cell lysates, creatine concentration of 25 μM uptake level was negligible, and creatine concentration of1 25 μM uptake level was negligible.

      Variant: No varient ID directly identified. Hemizygous nonsense mutation, A 1539C→T transition in SLC6A8 (GenBank accession number NM_005629) resulted in the substitution of an arginine codon by a termination codon (R514→X).

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      Zygosity: Hemizygous

      MaternalGenotype: grandmother aunt, and mother heterozygous for mutation

      AdditionalParentalTesting: N/A

      AlsoPublished: PMID: 11261517