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

SPRINGER

Año: 2008 vol. 124 p. 323 - 323

Small insertions (21 bp)Accession number Codon number/location InsertionHI080010 183 TGGTAC^ATCCcCCTTCTTCCTComments: The 1 bp insertion in exon 6 was found in one Argentinean patient, with French and Spanish ancestors, in heterozygous state. It produces a frameshift from the aminoacid 185 and generates a premature stop codon 17 aminoacids after. The same mutation was found in the mother in heterozygous state. Clinical phenotype: onset age 2 years, current age 15 years. Morphological phenotype: electron microspy of muscle biopsy showed bodies of ceroid lipofuscin like materialwith fingerprint profiles.