Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases-Reference-Cited by-同舟云学术

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

Published:2020-10-08 Issue:12 Volume:41 Page:2094-2104
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Montenegro‐Garreaud Ximena¹²³,Hansen Adam W.³⁴^ORCID,Khayat Michael M.³⁴^ORCID,Chander Varuna³⁴,Grochowski Christopher M.⁴^ORCID,Jiang Yunyun³,Li He³,Mitani Tadahiro⁴,Kessler Elena⁵,Jayaseelan Joy³,Shen Hua³,Gezdirici Alper⁶,Pehlivan Davut⁴⁷,Meng Qingchang³,Rosenfeld Jill A.⁴,Jhangiani Shalini N.³,Madan‐Khetarpal Suneeta⁵,Scott Daryl A.⁴⁸^ORCID,Abarca‐Barriga Hugo¹⁹,Trubnykova Milana¹¹⁰,Gingras Marie‐Claude³⁴¹¹,Muzny Donna M.³⁴,Posey Jennifer E.⁴^ORCID,Liu Pengfei⁴¹²,Lupski James R.³⁴¹³¹⁴^ORCID,Gibbs Richard A.³⁴

Affiliation:

1. Servicio de Genética y Errores Innatos del Metabolismo Instituto Nacional de Salud del Niño Lima Perú

2. División de Investigación Instituto de Medicina Genética Lima Perú

3. Human Genome Sequencing Center Baylor College of Medicine Houston Texas USA

4. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

5. Division of Medical Genetics UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA

6. Department of Medical Genetics Kanuni Sultan Suleyman Training and Research Hospital Istanbul Turkey

7. Section of Neurology, Department of Pediatrics Baylor College of Medicine Houston Texas USA

8. Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston Texas USA

9. Facultad de Ciencias de la Salud, Medicina Humana Universidad Científica del Sur Lima Perú

10. Area Preclínica, Facultad de Ciencias de la Salud Universidad Peruana de Ciencias Aplicadas Lima Perú

11. Michael E. DeBakey Department of Surgery Baylor College of Medicine Houston Texas USA

12. Baylor Genetics Houston Texas USA

13. Department of Pediatrics Texas Children's Hospital Houston Texas USA

14. Department of Pediatrics Baylor College of Medicine Houston Texas USA

Funder

National Institutes of Health

International Rett Syndrome Foundation

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24118

Reference33 articles.

1. Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

2. Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

3. Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

4. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

5. Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract;Clinical Genetics;2024-06-05

2. Kif1a and intact microtubules maintain synaptic-vesicle populations at ribbon synapses in zebrafish hair cells;2024-05-20

3. Bi-allelic variants in HCRT cause autosomal recessive narcolepsy;Neurogenetics;2024-01-19

4. Identification of Dopachrome Tautomerase (DCT) and Kinesin Family Member 1A (KIF1A) as Related Biomarkers and Immune Infiltration Characteristics of Vitiligo Based on Lasso-SVM Algorithms;Clinical, Cosmetic and Investigational Dermatology;2023-12

5. Autosomal dominant neurodevelopmental disorders associated with <italic>KIF1A</italic> gene variants in 6 pediatric patients;Journal of Zhejiang University (Medical Sciences);2023-12-01