Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)
- Leiden Univ. (Netherlands)
- Adelaide`s Children Hospital, North Adelaide (United Kingdom)
- Los Alamos National Lab., NM (United States)
- University College London (United Kingdom)
- Southwest Foundation for Biomedical Research, San Antonio, TX (United States)
- Amsterdam Medical Center (Netherlands)
The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease - CLN3 - has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous relationship indicated homozygosity for a D16S298 null allele. PCR analysis with different primers on DNA from the patient and his family suggests the presence of a cytogenetically undetectable deletion, which was confirmed by Southern blot analysis. The microdeletion is embedded in a region containing chromosome 16-specific repeated sequences. However, putative candidates for CLN3, members of the highly homologous sulfotransferase gene family, which are also present in this region in several copies, were not deleted in the patient. If the microdeletion in this patient is responsible for Batten disease, then we conclude that the sulfotransferase genes are probably not involved in JNCL. By use of markers and probes flanking D15S298, the maximum size of the microdeletion was determined to be {approximately}29 kb. The microdeletion may affect the CLN3 gene, which is expected to be in close proximity to D16S298. 27 refs., 6 figs.
- OSTI ID:
- 70443
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 3 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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