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Data show that IFT122 controls the ciliary localization of Shh (Montrer SHH Protéines) pathway regulators in different ways.
Studies on a complex A mutant mouse, defective for the Ift122 gene, is reported.
All the nine probands with syndromic craniosynostosis were found to carry the possibly causative variants, among which three variants including two missense mutations in IFT122 gene, in SMC1A (Montrer SMC1A Protéines) gene and a frameshift mutation in TWIST1 (Montrer TWIST1 Protéines) gene have never been reported in patients before.
Using a panel of skeletal dysplasias genes, including 11 related to SRP (Montrer UCN2 Protéines), we identified biallelic mutations in IFT122 in a fetus with a typical phenotype of SRP (Montrer UCN2 Protéines)-IV, finally confirmed that this phenotype is a ciliopathy and adding to the list of ciliopathies with major skeletal involvement.
The three patients had different, novel, compound heterozygous mutations in IFT122. Consequently, we compared these three patients to those previously described with IFT122 mutations. Thus, our report serves to add 6 novel mutations to the IFT122 mutation spectrum and to contribute to the IFT122-related clinical characterization.
this study was able to find causative IFT122 mutations in a non-consanguineous family with recurrent abortions.
we found a homozygous missense mutation in the IFT122 (WDR10) gene that cosegregated with Sensenbrenner syndrome
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
intraflagellar transport 122 homolog (Chlamydomonas)
, intraflagellar transport protein 122 homolog
, WD repeat domain 10
, WD repeat-containing protein 10
, intraflagellar transport 122 homolog
, WD repeat-containing protein 140