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Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

Abstract：

:Joubert syndrome (JBTS) is an autosomal-recessive disorder characterized by a distinctive mid-hindbrain malformation, developmental delay with hypotonia, ocular-motor apraxia, and breathing abnormalities. Although JBTS was first described more than 40 years ago in French Canadian siblings, the causal mutations have not yet been identified in this family nor in most French Canadian individuals subsequently described. We ascertained a cluster of 16 JBTS-affected individuals from 11 families living in the Lower St. Lawrence region. SNP genotyping excluded the presence of a common homozygous mutation that would explain the clustering of these individuals. Exome sequencing performed on 15 subjects showed that nine affected individuals from seven families (including the original JBTS family) carried rare compound-heterozygous mutations in C5ORF42. Two missense variants (c.4006C>T [p.Arg1336Trp] and c.4690G>A [p.Ala1564Thr]) and a splicing mutation (c.7400+1G>A), which causes exon skipping, were found in multiple subjects that were not known to be related, whereas three other truncating mutations (c.6407del [p.Pro2136Hisfs*31], c.4804C>T [p.Arg1602*], and c.7477C>T [p.Arg2493*]) were identified in single individuals. None of the unaffected first-degree relatives were compound heterozygous for these mutations. Moreover, none of the six putative mutations were detected among 477 French Canadian controls. Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Srour M,Schwartzentruber J,Hamdan FF,Ospina LH,Patry L,Labuda D,Massicotte C,Dobrzeniecka S,Capo-Chichi JM,Papillon-Cavanagh S,Samuels ME,Boycott KM,Shevell MI,Laframboise R,Désilets V,FORGE Canada Consortium.,Maranda B,

doi

10.1016/j.ajhg.2012.02.011

subject

Has Abstract

pub_date

2012-04-06 00:00:00

pages

693-700

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(12)00096-1

journal_volume

90

pub_type

杂志文章

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