Genes, Vol. 12, Pages 945: A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype

Genes, Vol. 12, Pages 945: A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype Genes doi: 10.3390/genes12060945 Authors: Gulten Tuncel Bahar Kaymakamzade Yeliz Engindereli Sehime G. Temel Mahmut Cerkez Ergoren Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function or structure in various organs are affected. Here, we report a 17-year-old male whose main clinical findings are oculomotor apraxia and truncal ataxia. Magnetic resonance imaging revealed the characteristic molar tooth sign of Joubert syndrome. He also has obsessive–compulsive disorder concomitantly, which is not a known feature of Joubert syndrome. Molecular genetic analysis revealed a homozygous c.2106G>A (p.(Thr702=)) variation in the Abelson helper integration 1 (AHI1) gene and another homozygous c.1739C>T (p.Thr580Ile) variation in the coiled-coil and C2 domain-containing protein 1A (CC2D1A) gene. Even though certain AHI1 variations were previously associated with Joubert syndrome (JS), c.2106G>A (p.(Thr702=)) was only reported in one patient in trans with another known pathogenic JS variant. The CC2D1A c.1739C>T (p.Thr580Ile) variation, on the other hand, has been reported to cause autosomal recessive nonsyndromic mental retardat...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research