Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

doi:10.1111/cge.12785

Article

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

Clinical genetics - 1 Dec 2016

Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel A-L, St-Onge J, Duffourd Y, Pazour G J, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière J-B, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C

Abstract excerpt

The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease-causing genes encode for centrosomal proteins, components of the transition zone or proteins implicated in ciliary signaling. A unique consanguineous family presenting with an unclass...

Topics

Adaptor Proteins, Signal Transducing
Adolescent
Adult
Ciliopathies
Consanguinity
Craniofacial Abnormalities
Dwarfism
Ear
Ellis-Van Creveld Syndrome
Exome

Female

Genetic Heterogeneity

High-Throughput Nucleotide Sequencing

Homozygote

Humans

Male

Mutation

Neck

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