期刊
CLINICAL GENETICS
卷 101, 期 3, 页码 359-363出版社
WILEY
DOI: 10.1111/cge.14097
关键词
ABHD16A; autistic behavior; autosomal recessive; characteristic face; hereditary spastic paraplegia; nonsense; skin lesion; sleep disturbance
资金
- JSPS KAKENHI [JP19H03621, JP20K17936, JP21K15907]
- Japan Agency for Medical Research and Development [JP21ek0109486, JP21ek0109549, JP21cm0106503, JP21ek0109493]
- NCGM Intramural Research Fund [21A1011]
- Takeda Science Foundation
ABHD16A-related HSP is a genetically and clinically heterogeneous disease characterized by early onset in childhood, developmental delay, intellectual disability, and other symptoms. Affected individuals may also exhibit characteristic facial features, sleep disturbances, and skin lesions.
Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous genetic disease characterized by progressive weakness and spasticity predominantly affecting the lower limbs. Complex HSP is a subset of HSP presenting with additional neuronal and/or non-neuronal phenotypes. Here, we identify a homozygous ABHD16A nonsense variant in two affected children in a Chilean family. Very recently, two groups reported patients with biallelic ABHD16A whose clinical presentation was similar to that of our patients. By reviewing the clinical features of these reports and our patients, ABHD16A-related HSP can be characterized by early childhood onset, developmental delay, intellectual disability, speech disturbance, extrapyramidal signs, psychiatric features, no sphincter control, skeletal involvement, thin corpus callosum, and high-intensity signals in white matter on T2-weighted brain MRI. In addition, our affected siblings showed a characteristic face, sleep disturbance, and nodular and hyperpigmented skin lesions, which have not previously been reported in this condition.
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