Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
Background: <i>KIF1A</i> (kinesin family member 1A)-related disorders encompass a variety of diseases. <i>KIF1A</i> variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neur...
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MDPI AG
2023-04-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/5/972 |
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| author | Justyna Paprocka Aleksandra Jezela-Stanek Robert Śmigiel Anna Walczak Hanna Mierzewska Anna Kutkowska-Kaźmierczak Rafał Płoski Ewa Emich-Widera Barbara Steinborn |
| author_facet | Justyna Paprocka Aleksandra Jezela-Stanek Robert Śmigiel Anna Walczak Hanna Mierzewska Anna Kutkowska-Kaźmierczak Rafał Płoski Ewa Emich-Widera Barbara Steinborn |
| author_sort | Justyna Paprocka |
| collection | DOAJ |
| description | Background: <i>KIF1A</i> (kinesin family member 1A)-related disorders encompass a variety of diseases. <i>KIF1A</i> variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neuropathy type 2 (HSN2C, OMIM614213), and autosomal dominant neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment (NESCAV syndrome), formerly named mental retardation type 9 (MRD9) (OMIM614255). <i>KIF1A</i> variants have also been occasionally linked with progressive encephalopathy with brain atrophy, progressive neurodegeneration, PEHO-like syndrome (progressive encephalopathy with edema, hypsarrhythmia, optic atrophy), and Rett-like syndrome. Materials and Methods: The first Polish patients with confirmed heterozygous pathogenic and potentially pathogenic <i>KIF1A</i> variants were analyzed. All the patients were of Caucasian origin. Five patients were females, and four were males (female-to-male ratio = 1.25). The age of onset of the disease ranged from 6 weeks to 2 years. Results: Exome sequencing identified three novel variants. Variant c.442G>A was described in the ClinVar database as likely pathogenic. The other two novel variants, c.609G>C; p.(Arg203Ser) and c.218T>G, p.(Val73Gly), were not recorded in ClinVar. Conclusions: The authors underlined the difficulties in classifying particular syndromes due to non-specific and overlapping signs and symptoms, sometimes observed only temporarily. |
| first_indexed | 2024-03-11T03:42:33Z |
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| id | doaj.art-4fecd5c20f03425d8218abf21b28c3cf |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T03:42:33Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-4fecd5c20f03425d8218abf21b28c3cf2023-11-18T01:28:43ZengMDPI AGGenes2073-44252023-04-0114597210.3390/genes14050972Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish PatientsJustyna Paprocka0Aleksandra Jezela-Stanek1Robert Śmigiel2Anna Walczak3Hanna Mierzewska4Anna Kutkowska-Kaźmierczak5Rafał Płoski6Ewa Emich-Widera7Barbara Steinborn8Department of Pediatric Neurology, Faculty of Medical Sciences, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, PolandDepartment of Family and Pediatric Nursing, Wroclaw Medical University, 50-368 Wroclaw, PolandDepartment of Medical Genetics, Warsaw Medical University, 02-091 Warsaw, PolandDepartment of Child and Adolescent Neurology, Institute of Mother and Child, 01- 211 Warsaw, PolandDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Medical Genetics, Warsaw Medical University, 02-091 Warsaw, PolandDepartment of Pediatric Neurology, Faculty of Medical Sciences, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Developmental Neurology, Poznan University of Medical Sciences, 61-701 Poznan, PolandBackground: <i>KIF1A</i> (kinesin family member 1A)-related disorders encompass a variety of diseases. <i>KIF1A</i> variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neuropathy type 2 (HSN2C, OMIM614213), and autosomal dominant neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment (NESCAV syndrome), formerly named mental retardation type 9 (MRD9) (OMIM614255). <i>KIF1A</i> variants have also been occasionally linked with progressive encephalopathy with brain atrophy, progressive neurodegeneration, PEHO-like syndrome (progressive encephalopathy with edema, hypsarrhythmia, optic atrophy), and Rett-like syndrome. Materials and Methods: The first Polish patients with confirmed heterozygous pathogenic and potentially pathogenic <i>KIF1A</i> variants were analyzed. All the patients were of Caucasian origin. Five patients were females, and four were males (female-to-male ratio = 1.25). The age of onset of the disease ranged from 6 weeks to 2 years. Results: Exome sequencing identified three novel variants. Variant c.442G>A was described in the ClinVar database as likely pathogenic. The other two novel variants, c.609G>C; p.(Arg203Ser) and c.218T>G, p.(Val73Gly), were not recorded in ClinVar. Conclusions: The authors underlined the difficulties in classifying particular syndromes due to non-specific and overlapping signs and symptoms, sometimes observed only temporarily.https://www.mdpi.com/2073-4425/14/5/972<i>KIF1A</i>neurodegenerationSPG30HSN2CNESCAVchildren |
| spellingShingle | Justyna Paprocka Aleksandra Jezela-Stanek Robert Śmigiel Anna Walczak Hanna Mierzewska Anna Kutkowska-Kaźmierczak Rafał Płoski Ewa Emich-Widera Barbara Steinborn Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients Genes <i>KIF1A</i> neurodegeneration SPG30 HSN2C NESCAV children |
| title | Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients |
| title_full | Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients |
| title_fullStr | Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients |
| title_full_unstemmed | Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients |
| title_short | Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients |
| title_sort | expanding the knowledge of kif1a dependent disorders to a group of polish patients |
| topic | <i>KIF1A</i> neurodegeneration SPG30 HSN2C NESCAV children |
| url | https://www.mdpi.com/2073-4425/14/5/972 |
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