A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face

• DOI: 10.1111/cge.14097
• Publication Date: 2021-12-06T05:09:13Z
• Authors: Noriko Miyake; Sebastián Silva; Mónica Troncoso; Nobuhiko Okamoto; Yoshiki Andachi; Mitsuhiro Kato; Chisato Iwabuchi; Mio Hirose; Atsushi Fujita; Yuri Uchiyama; Naomichi Matsumoto
• Keywords: Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous genetic disease characterized by progressive weakness spasticity predominantly affecting the lower limbs. Complex HSP subset of presenting with additional neuronal and/or non-neuronal phenotypes. Here, we identify homozygous ABHD16A nonsense variant in two affected children Chilean family. Very recently, groups reported patients biallelic whose clinical presentation was similar to that our patients. By reviewing features these reports patients, ABHD16A-related can be early childhood onset, developmental delay, intellectual disability, speech disturbance, extrapyramidal signs, psychiatric features, no sphincter control, skeletal involvement, thin corpus callosum, high-intensity signals white matter on T2-weighted brain MRI. In addition, siblings showed characteristic face, sleep nodular hyperpigmented skin lesions, which have not previously been this condition.