Novel human pathological mutations. Gene symbol: CLN6. Disease: Neuronal Ceroid Lipofuscinosis, Late infantile.

SPRINGER

Año: 2008 vol. 124 p. 323 - 323

Missense/Nonsense Mutations (single base-pair substitutions)Accession number Codon number Nucleotide substitution Amino acid substitutionHM080059 103 gCGG-TGG Arg-TrpComments: This missense mutation in exon 4 was found in one Argentinean patient, with Spanish and French ancestors, in heterozygous state. The large basic aminoacid Arg is changed to the cyclic hydrophobic aminoacid Trp. The same mutation was found in the father in heterozygous state. This mutation was excluded in 100 Italian and 100 northern African control chromosomes. Clinical phenotype: onset age 2 years, current age 15 years. Morphological phenotypes: the electron microscopy of muscle biopsy showed bodies of ceroid lipofuscin like material with fingerprint profiles.