Ask about this productRelated genes to: Pnkd antibody
- Gene:
- PNKD NIH gene
- Name:
- PNKD metallo-beta-lactamase domain containing
- Previous symbol:
- -
- Synonyms:
- DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1, MR-1S
- Chromosome:
- 2q35
- Locus Type:
- gene with protein product
- Date approved:
- 1996-09-13
- Date modifiied:
- 2019-01-25
Related products to: Pnkd antibody
Related articles to: Pnkd antibody
- Tourette Syndrome (TS) is a neurodevelopmental disorder with a complex genetic architecture, involving both rare high-impact variants and polygenic contributions. While several risk genes have been identified by whole-exome sequencing (WES), the relationship between genetic variants and clinical phenotype in TS patients remains insufficiently characterized. - Source: PubMed
Publication date: 2026/02/13
Saia FedericaMirabella FedericaLonghitano AndreaMaugeri NicolettaBarone RitaRizzo Renata - Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal dominant condition characterized by recurring dystonia or mixed chorea and ballism caused by emotional stress, exhaustion, coffee, alcohol, menstruation, and other factors. Here, we provide a large family PNKD pedigree from mainland China, where the same c.20C4T (p.Ala7Val) mutation in exon 1 of the PNKD gene was genetically confirmed to be present in nine affected individuals. Here, we report a rarely described Asian PNKD pedigree and aim to widen the clinical and genetic spectrum of PNKD while also providing fresh diagnostic insights for this rare condition. - Source: PubMed
Publication date: 2026/01/09
Zhang WenhanLi JingwenXie RuichuanLu ZhongjiaoZhao NanWang KanLi YanshengLi ShuangWang GangGao Li - The gene located at 16p11 encodes proline-rich transmembrane protein with the heterozygous mutation being commonly reported. The most common variant found was the c.649dup.(Arg217Profs*8). Various case reviews documenting pathogenic variants reported an association with paroxysmal movement disorders, including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, paroxysmal kinesigenic dyskinesia associated with infantile convulsions (PKD/IC), also known as infantile convulsions with choreoathetosis syndrome paroxysmal non-kinesigenic dyskinesia (PNKD), hemiplegic migraine, and exercise-induced dyskinesia. However, more recent reports have also documented mutation associated with a broader clinical picture presenting with congenital microcephaly, severe learning difficulties, and pharmacoresistant encephalopathy. We hereby report a patient who presented with paroxysmal dyskinesia, harbouring the mutation variant on gene. At 5 months of age, our proband presented to emergency because of jerking movements while in a moving car. This was followed by generalized tonic-clonic seizures and kinesigenic posturing. The latter would occur tens of times per day and a specific trigger did not always prevail. The movements responded well to low-dose carbamazepine and genetic studies confirmed a mutated variant of c.649dup.(Arg217Profs*8). - Source: PubMed
Publication date: 2026/02/09
Pace MariahSoler Doriette - Long-read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease. - Source: PubMed
Publication date: 2026/02/07
Fienemann AndréLüth TheresaSchaake SusenGabbert CarolinMöller MariusBusch HaukeLohmann KatjaGustafson Jonas AMiller Danny EDaida KensukeFunayama ManabuHattori NobutakaSassi Samia BenHentati FaycelFarrer Matthew JUllrich Kristian KKlein ChristineTrinh Joanne - Paroxysmal kinesigenic dyskinesia (PKD) is a genetically heterogeneous movement disorder primarily associated with PRRT2 variants. Recently, TMEM151A and KCNJ10 have emerged as additional PKD-associated genes. However, genotype-phenotype correlations remain poorly defined. In this study, we retrospectively analyzed 41 PKD patients from a single center in Southeastern China. All patients underwent comprehensive clinical evaluation and whole-exome sequencing (WES), with variant classification based on ACMG guidelines. Additionally, we conducted a literature review of PKD cohorts published since 2021 to compare the clinical characteristics of patients carrying PRRT2, TMEM151A, KCNJ10 variants, and those without identified mutations. A genetic diagnosis was achieved in 19/41 patients (46.3%), with PRRT2 being the most frequent. We identified five novel variants, including two in KCNJ10, two in TMEM151A, and one in PNKD. Compared to other groups, PRRT2-positive patients had the earliest onset and highest treatment response. TMEM151A-positive patients tended to exhibit more frequent attacks and a lower response to carbamazepine. KCNJ10-positive patients presented with later onset and ultra-brief attacks. Genetically negative cases displayed distinct features, including fewer auras and more unilateral, ultra-brief episodes, yet responded well to carbamazepine. PKD exhibits significant genotype-dependent clinical heterogeneity. Novel variants in TMEM151A and KCNJ10 expand the mutational spectrum and suggest emerging genotype-specific phenotypic trends. Systematic genetic and phenotypic profiling may guide more precise diagnosis and management of PKD. - Source: PubMed
Li MenghuaTan DandanZhu YuXiong YingZhu MinZhou MeihongHong DaojunQiu Yusen