Open AccessBi-Allelic c.1746G>T; p.Leu582= Variants in <b><i>TUBGCP4</i></b> in a Boy with Autism: Clinical Data and Literature Review
Author(s) -
Daniel Martı́n Fernández-Mayoralas,
Jacobo Albert,
Sara López-Martín,
Mar Jiménez de la Peña,
Ana Laura Fernández-Perrone,
Ana Jiménez de Domingo,
Beatriz CallejaPérez,
Mónica Mártinez-García,
Sara Álvarez,
Alberto FernándezJaén
Publication year - 2021
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000519365
Subject(s) - microcephaly , exome sequencing , autism , genetics , allele , phenotype , exon , genotype , compound heterozygosity , retinal , autism spectrum disorder , gene , medicine , biology , ophthalmology , psychiatry
Bi-allelic mutations in the TUBGCP4 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 synonymous TUBGCP4 variants in homozygous state: c.1746G>T; p.Leu582=. This synonymous variant has been previously described and probably leads to skipping of exon 16 of TUBGCP4 . These results broaden the clinical spectrum of this new syndrome and suggest that TUBGCP4 bi-allelic mutations may underlie complex neurodevelopmental disorders.