التفاصيل البيبلوغرافية
| العنوان: |
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism. |
| المؤلفون: |
Gebert, Johannes, Brunet, Theresa, Wagner, Matias, Rath, Jakob, Aull-Watschinger, Susanne, Pataraia, Ekaterina, Krenn, Martin |
| المصدر: |
Neuropediatrics; Jun2024, Vol. 55 Issue 3, p209-212, 4p |
| مصطلحات موضوعية: |
MISSENSE mutation, PARKINSONIAN disorders, PEOPLE with disabilities, INTELLECTUAL disabilities, EPILEPSY, NEURAL development |
| مستخلص: |
Biallelic variants in PTRHD1 have been associated with autosomal recessive intellectual disability, spasticity, and juvenile parkinsonism, with few reported cases. Here, we present the clinical and genetic findings of a female of Austrian origin exhibiting infantile neurodevelopmental abnormalities, intellectual disability, and childhood-onset parkinsonian features, consistent with the established phenotypic spectrum. Notably, she developed genetic generalized epilepsy at age 4, persisting into adulthood. Using diagnostic exome sequencing, we identified a homozygous missense variant (c.365G > A, p.(Arg122Gln)) in PTRHD1 (NM_001013663). In summary, our findings not only support the existing link between biallelic PTRHD1 variants and parkinsonism with neurodevelopmental abnormalities but also suggest a potential extension of the phenotypic spectrum to include generalized epilepsy. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
