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Hum Mutat. 2009 Aug;30(8):E813-30. doi: 10.1002/humu.21057.

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

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1
National Institute of Health and Welfare, Public Health Genomics Unit and FIMM, Institute for Molecular Medicine Finland, Helsinki 00290, Finland.

Abstract

Meckel syndrome (MKS) is a lethal malformation syndrome that belongs to the group of disorders that are associated with primary cilia dysfunction. Total of five genes are known to be involved in the molecular background of MKS. Here we have systematically analyzed all these genes in a total of 29 MKS families. Seven of the families were Finnish and the rest originated from elsewhere in Europe. We found 12 novel mutations in 13 families. Mutations in the MKS genes are also found in other syndromes and it seems reasonable to assume that there is a correlation between the syndromes and the mutations. To obtain some supportive information, we collected all the previously published mutations in the genes to see whether the different syndromes are dictated by the nature of the mutations. Based on this study, mutations play a role in the clinical phenotype, given that the same allelic combination of mutations has never been reported in two clinically distinct syndromes.

PMID:
19466712
PMCID:
PMC2718326
DOI:
10.1002/humu.21057
[Indexed for MEDLINE]
Free PMC Article
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