Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review

Molecular syndromology

article

Martín Fernández-Mayoralas, Daniel¹  Albert, Jacobo²  López-Martín, Sara²  de la Peña, Mar Jiménez³  Fernández-Perrone, Ana Laura¹  Jiménez de Domingo, Ana¹  Calleja-Pérez, Beatriz⁴  Martínez-García, Mónica⁵  Álvarez, Sara⁵  Fernández-Jaén, Alberto¹ 

[1] Department of Pediatric Neurology, Hospital Universitario Quirónsalud;Faculty of Psychology, Universidad Autónoma de Madrid;Neuroimaging, Hospital Universitario Quirónsalud;Pediatric Primary Care;Genomics and Medicine

关键词: TUBGCP4;    Recessive syndrome;    Autism;    Intellectual disability;   

DOI  :  10.1159/000519365

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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 TUBGCP4T; 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.

【 授权许可】

CC BY