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Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa . [ 4 ]
COACH syndrome, also known as Joubert syndrome with hepatic defect, [4] is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: c erebellar vermis aplasia , o ligophrenia , congenital a taxia , c oloboma and h epatic fibrosis .
AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. [2]
Job syndrome; Johanson–Blizzard syndrome; Johnson–Hall–Krous syndrome; Johnson–Munson syndrome; Johnston–Aarons–Schelley syndrome; Jones–Hersh–Yusk syndrome; Jones syndrome; Jorgenson–Lenz syndrome; Joseph disease; Joubert syndrome bilateral chorioretinal coloboma; Joubert syndrome
Mutations in the RPGRIP1L gene are associated with Joubert syndrome and Meckel syndrome which belong to a group of developmental autosomal recessive disorders that are associated with cilium dysfunction. [2] Mutations in this gene are also associated with nephronophthisis. [5]
Joubert syndrome [ edit ] JS is defined clinically by features of hypotonia in infancy with later development of ataxia , developmental delays, mental retardation , abnormal breathing patterns, abnormal eye movements specific to oculomotor apraxia , or the presence of the MTS on the cranial MRI .
Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent; this has been attributed to the resistance to intermarriage of this population. [36] Kaposi's sarcoma [37] Maple syrup urine disease [38] Mucolipidosis IV [39] Myeloproliferative neoplasms including polycythemia vera and essential thrombocythemia [40]
A mutation in this gene leads to infant and child blindness, a disease known as Leber Congenital Amaurosis. As of today, 35 different mutations in CEP290 are responsible for causing LCA. Other mutations in CEP290 have also been identified in causing Meckel Syndrome and Joubert Syndrome, a few among many syndromes.