Joubert syndrome



JBTS;;Joubert-Boltshauser Syndrome;Cerebelloparenchymal Disorder IV (CPD4); ;Cerebellooculorenal Syndrome 1 (CORS1)

Tipo de test: 

Tiempo de espera: 

30 dias

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Joubert syndrome is a congenital neurological diseases, considered rare because of their low prevalence in the population, which is presented under an autosomal recessive inheritance pattern. Was first described by Joubert et al in 1969.

This alteration may be confused on many occasions, by other neurological disorder. However, Joubert syndrome patients have a congenital malformation in the brain stem, and total or partial underdevelopment of the cerebellar vermis.

This malformation causes a number of problems in the patient: changes in breathing pattern (alternating periods of hyperpnea and apnea), presence of hypotonia, apraxia, mental retardation, ataxia and nystagmus. It depends on the stage of development in which the affected person is.

Likewise, there are a number of features typical of the disease, as low implanting ears, dysmorphic facies, renal poliquitosis, retinal dystrophy, microcephaly, and polydactyly, among others.

At the time of diagnosis of the disease is common a neurological study, under the use of procedures such as MRI brain with axial projections, coronal and sagittal, for the detection of the anomaly.

Currently, there are different types of therapies (conductive to neurophysiological treatments) that could help successfully to improve the quality of life of patients.

Yet despite being a genetically heterogeneous disease, genetic diagnosis is now possible, through the development of molecular analysis in families where mutations have been detected in genes associated with the disease.

Therefore, genetic counseling will play a key role in preventing new members affected, since in couples where their first son suffers from Joubert syndrome, the probability that their second child becomes sick reaches 25%.


Genes involved in Joubert syndrome

Due to the genetic heterogeneity of the disease have been reported up to 19 genes, where biallelic mutations could be causing pathology: NPHP1, AHI1, CEP290 (NPHP6), TMEM67 (MKS3) RPGRIP1L, CC2D2A, ARL13B, INPP5E, OFD1, TMEM216, KIF7, TCTN1, TCTN2, TMEM237, CEP41, TMEM138, C5orf42, TMEM231, and TCTN3. And is that to date, only been reported ill patients heterozygous for TTC21 gene.


Tomado de GeneReviews




Autosomal recessive