The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Abstract:

:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mutations, which are spread throughout the gene, are presented. This brings the total reported to date to 35, which represents a detection rate of 60%. Of the mutations that have been reported to date, all but one result in the introduction of a premature-termination codon into the predicted protein, treacle. Moreover, the mutations are largely family specific, although a common 5 bp deletion in exon 24 (seven different families) and a recurrent splicing mutation in intron 3 (two different families) have been identified. This mutational spectrum supports the hypothesis that TCS results from haploinsufficiency.

journal_name

Am J Hum Genet

authors

Edwards SJ,Gladwin AJ,Dixon MJ

subject

Has Abstract

pub_date

1997-03-01 00:00:00

pages

515-24

issue

3

eissn

0002-9297

issn

1537-6605

journal_volume

60

pub_type

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