RGD Reference Report - Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome. - Rat Genome Database

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Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome.

Authors: Xin, B  Wang, H 
Citation: Xin B and Wang H, Mol Syndromol. 2013 Jan;3(6):288-90. doi: 10.1159/000345924. Epub 2012 Dec 21.
RGD ID: 10401100
Pubmed: PMID:23599700   (View Abstract at PubMed)
PMCID: PMC3569105   (View Article at PubMed Central)
DOI: DOI:10.1159/000345924   (Journal Full-text)

Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive multisystem degeneration and segmental premature aging. Mutations in the DNA repair gene ERCC6 are responsible for the majority of CS cases reported. In this study, we identified 4 patients presenting with CS from 2 Old Order Amish families. Sequence analysis of the ERCC6 gene revealed 2 novel mutations associated with the disorder in these patients. The patients from family 1 were homozygous for a splice-site mutation, c.2709 + 1G>T, in intron 14 of ERCC6, whereas the patients from family 2 were compound heterozygous for c.2709 + 1G>T and a short deletion in exon 5 (c.1293_1320del). Our findings provide evidence of allelic heterogeneity in Old Order Amish, which is extremely uncommon for a rare condition in an isolated founder population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Cockayne syndrome  IAGP 10401100DNA:splice-site mutation more ...RGD 
Cockayne syndrome  ISOERCC6 (Homo sapiens)10401100; 10401100DNA:splice-site mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ercc6  (ERCC excision repair 6, chromatin remodeling factor)

Genes (Mus musculus)
Ercc6  (excision repair cross-complementing rodent repair deficiency, complementation group 6)

Genes (Homo sapiens)
ERCC6  (ERCC excision repair 6, chromatin remodeling factor)


Additional Information