[P2-191] A novel mutation in PANK2 in a pediatric patient with severe dystonia: a clinic report and review on Chinese patients
[Introduction] Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessively inherited neurodegenerative condition resulting from mutations in pantothenate kinase 2 (PANK2) gene. This study is aimed to describe clinical presentations and a novel mutation in PANK2 in a pediatric patient and reviewed reported data on other Chinese patients with PKAN.
[Methodology] We reported a pediatric PKAN patient and his novel mutation in PANK2. We also reviewed the literatures including additional 19 Chinese patients with PKAN. All patients were divided into classic and atypical types by their manifestation and age of onset. We analyzed the data on these reported Chinese PKAN patients.
[Results] The 4-year old patient presented a typical feature including progressive dementia, dystonia, dysphagia and involuntary movements. A characteristic "eye-of-the-tiger" sign on T2-weighted MRI was identified. Following sequencing of PANK2, a novel compound heterozygous c.482A>G (Exon 4) and C.287-288 (Exon 3) ins G mutation was found. A heterozygous c.482A>G (Exon 4) and c.287-288 (Exon 3) ins G mutation was identified in his normal consanguineous parents respectively. Literature review shows that classic PKAN type is more common in Chinese patients, while mutation in exon 2 and 3 is the most frequent mutation.
[Conclusions] A novel mutation in PANK2 is detected in this study. More classic PKAN patients are reported in China, and exon 2 and 3 are hot spots for screening PANK2 mutations in Chinese patients.
[Methodology] We reported a pediatric PKAN patient and his novel mutation in PANK2. We also reviewed the literatures including additional 19 Chinese patients with PKAN. All patients were divided into classic and atypical types by their manifestation and age of onset. We analyzed the data on these reported Chinese PKAN patients.
[Results] The 4-year old patient presented a typical feature including progressive dementia, dystonia, dysphagia and involuntary movements. A characteristic "eye-of-the-tiger" sign on T2-weighted MRI was identified. Following sequencing of PANK2, a novel compound heterozygous c.482A>G (Exon 4) and C.287-288 (Exon 3) ins G mutation was found. A heterozygous c.482A>G (Exon 4) and c.287-288 (Exon 3) ins G mutation was identified in his normal consanguineous parents respectively. Literature review shows that classic PKAN type is more common in Chinese patients, while mutation in exon 2 and 3 is the most frequent mutation.
[Conclusions] A novel mutation in PANK2 is detected in this study. More classic PKAN patients are reported in China, and exon 2 and 3 are hot spots for screening PANK2 mutations in Chinese patients.