A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the << molar tooth sign >>. JS is genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia biogenesis and/or function. In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6D, encoding a prenyl-binding protein.

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

Background: Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathway, as being responsible for this syndrome.

Methods: We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies.

[Value of MRI in the evaluation of congenital anomalies of the heart and great vessels].

Management of congenital heart diseases (CHD) frequently is a diagnostic challenge. MRI, as a complement to echocardiography, plays an important role in the non-invasive evaluation of these anomalies. MRI allows high resolution anatomical evaluation of these structures in multiple planes as well as functional evaluation.