Pontocerebellar Hypoplasia, Type 6 (RARS2)
Pontocerebellar hypoplasia, type 6 is an autosomal recessive neurodegenerative disorder that is caused by pathogenic variants in the gene RARS2. While it is found in different ethnicities around the world, it is more prevalent in individuals of Sephardic Jewish descent from Iraq, Syria, and Tunisia. Clinical symptoms are present in the first few days of life, including hypotonia and failure to thrive. Patients exhibit atrophy of brain structures, progressive microcephaly and dysmorphic facial features. Seizures and limb spasticity may also be present. Development is severely delayed and death is likely to occur in childhood. No genotype-phenotype relationship is known.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Pontocerebellar Hypoplasia, Type 6||RARS2||1, 2, 7, 9, 10, 12, 14, 16, 18, 20  (*12)||AR||Worldwide||< 1 in 500||>95%||0.000100190361687206|
|Pontocerebellar Hypoplasia, Type 6||RARS2||1, 2, 7, 9, 10, 12, 14, 16, 18, 20  (*12)||AR||Sephardic Jewish – Iraqi, Syrian, and Tunisian||N/A||>95%|