Bi-Allelic c.1746G & #x3e;T; p.Leu582= Variants in < b > < i > TUBGCP4 < /i > < /b > in a Boy with Autism: Clinical Data and Literature Review

Bi-allelic mutations in theTUBGCP4 gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference. No retinal abnormalities were observed. Brain MRI revealed the presence of enlarged sheaths of both tortuous optic nerves; both eyes had shorter axial lengths. Whole-exome sequencing in trio revealed synonymousTUBGCP4 variants in homozygous state: c.1746G#x3e;T; p.Leu582=. This synonymous variant has been previously described and probably leads to skipping of exon 16 ofTUBGCP4. These results broaden the clinical spectrum of this new syndrome and suggest thatTUBGCP4 bi-allelic mutations may underlie complex neurodevelopmental disorders.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research