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Mol Syndromol. 2013 Jan;3(6):288-90. doi: 10.1159/000345924. Epub 2012 Dec 21.

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

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1
DDC Clinic for Special Needs Children, Middlefield, Ohio, USA.

Abstract

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.

KEYWORDS:

Cockayne syndrome; ERCC6; Old Order Amish; Sequence analysis

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