medigraphic.com
Revista Médica Sinergia

2020, Number 08

Next >>

Revista Médica Sinergia 2020; 5 (08)

PTEN syndromes and their association with autism

Cartín RAC, Brenes MN, Maya CA

Language: Spanish
References: 20
Page: 1-9
PDF size: 146.51 Kb.


ABSTRACT

The PTEN gene, better known as PTEN tyrosine phosphatase, is a tumor suppressor gene on chromosome 10q23, it is the second most frequently mutated / deleted gene in cancer. The genetic alteration of this gene can create hamartomas, which are observed in hamartomatous tumor syndromes associated with the PTEN gene. The associated syndromes are a heterogeneous group of clinical disorders that share a germ mutation, characterized by multiple hamartomas, overgrowth, neoplasms that can appear anywhere in the body. This can synergize with mutations in other genes contributing to a small subset of children diagnosed with autism disorder spectrum disorder associated with macrocephaly, as well as other related syndromes. These disorders include Cowden syndrome, Bannayan Riley Ruvalcaba syndrome, Lhermitte-Duclos disease in adulthood and autism spectrum disorder associated with macrocephaly. It has been observed that approximately one fifth of these syndromes are directly associated with autism spectrum disorder which is a neurodevelopmental disorder, which begins in early childhood and is characterized by a deterioration in social interaction and communication, accompanied by repetitive and stereotyped behaviors.


REFERENCES

  1. Carolyn F. Bridgemohan. Autism Spectrum Disorder. En Robert M. Kliegman, editor. Nelson textbook pediatrics. 21th Edition. ELSEVIER; (2019). p. 294-302.

  2. Frazier TW. Autism Spectrum Disorder Associated with Germline Heterozygous PTEN Mutations. Cold Spring Harbor Perspectives in Medicine. 2019 07 15;9(10):a037002. https://doi.org/10.1101/cshperspect.a037002

  3. Rademacher S, Eickholt BJ. PTEN in Autism and Neurodevelopmental Disorders. Cold Spring Harbor Perspectives in Medicine. 2019 08 19;9(11):a036780. https://doi.org/10.1101/cshperspect.a036780

  4. Chen C, Chen J, He L, Stiles BL. PTEN: Tumor Suppressor and Metabolic Regulator. Frontiers in Endocrinology. 2018 07 09;9. https://doi.org/10.3389/fendo.2018.00338

  5. Pilarski R. PTEN Hamartoma Tumor Syndrome: A Clinical Overview. Cancers. 2019 06 18;11(6):844. https://doi.org/10.3390/cancers11060844

  6. Macken WL, Tischkowitz M, Lachlan KL. PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2019 Oct 14;181(4):591-610. https://doi.org/10.1002/ajmg.c.31743

  7. Smith IN, Thacker S, Seyfi M, Cheng F, Eng C. Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer. The American Journal of Human Genetics. 2019 05;104(5):861- 878. https://doi.org/10.1016/j.ajhg.2019.03.009

  8. Skelton P, Stan R, Luikart B. The Role of PTEN in Neurodevelopment. Molecular Neuropsychiatry. 2019;5(1):60-71. https://doi.org/10.1159/000504782

  9. Plamper M, Gohlke B, Schreiner F, Woelfle J. Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children. Cancers. 2019 07 11;11(7):975. https://doi.org/10.3390/cancers11070975

  10. Yehia L, Keel E, Eng C. The Clinical Spectrum of PTEN Mutations. Annual Review of Medicine. 2020 01 27;71(1):103-116. https://doi.org/10.1146/annurev-med-052218-125823

  11. Yehia L, Ni Y, Feng F, Seyfi M, Sadler T, Frazier TW, Eng C. Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan- Riley-Ruvalcaba Syndrome. The American Journal of Human Genetics. 2019 Oct;105(4):813- 821. https://doi.org/10.1016/j.ajhg.2019.09.004

  12. De la Rosa J, Weber J, Rad R, Bradley A, Cadiñanos J. Disentangling PTEN-cooperating tumor suppressor gene networks in cancer. Molecular & Cellular Oncology. 2017 05 04;4(4):e1325550. https://doi.org/10.1080/23723556.2017.1325550

  13. Goldenberg A, Marguet F, Gilard V, Cardine A, Hassani A, Doz F, Radi S, Vasseur S, Bou J, Branchaud M, Houdayer C, Baert-Desurmont S, Laquerriere A, Frebourg T. Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas. Acta Neuropathologica Communications. 2019 Dec;7(1). https://doi.org/10.1186/s40478-019-0841-0

  14. Zahedi Abghari F, Moradi Y, Akouchekian M. PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review. Med J Islam Repub Iran. [Internet]. 2019 [Consultado el 08 enero 2020];33:10. Disponible en: https://doi.org/10.34171/mjiri33.10

  15. Abdelli LS, Samsam A, Naser SA. Propionic Acid Induces Gliosis and Neuro-inflammation through Modulation of PTEN/AKT Pathway in Autism Spectrum Disorder. Scientific Reports. 2019 06 19;9(1). https://doi.org/10.1038/s41598-019-45348-z

  16. Busch RM, , Srivastava S, Hogue O, Frazier TW, Klaas P, Hardan A, Martinez-Agosto JA, Sahin M, Eng C. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Translational Psychiatry. 2019 Oct 08;9(1). https://doi.org/10.1038/s41398-019-0588-1

  17. .Ramaswami G, Geschwind D. Genetics of autism spectrum disorder. Neurogenetics, Part I. [Internet]. 2018 [Consultado el 08 enero 2020];:321-329.Disponible en: https://doi.org/10.1016/B978-0-444-63233- 3.00021-X

  18. Satterstrom F, Kosmicki J, Wang J, Breen M, De Rubeis S, An J et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. [Internet]. 2020 [Consultado el 08 enero 2020];180(3):568-584.e23.Disponible en: https://doi.org/10.1016/j.cell.2019.12.036

  19. Biomarker May Predict Cancer Versus Autism Risk in Pten Hamartoma Tumor Syndrome: Decreased levels of fumarate were more strongly associated with autism than cancer in persons with PTEN mutations. American Journal of Medical Genetics Part A. [Internet]. 2019 [Consultado el 08 enero 2020];182(1):7-8. Disponible en: https://doi.org/10.1002/ajmg.a.6122011

  20. Wu H, Li H, Bai T, Han L, Ou J, Xun G, Zhang Y, Wang Y, Duan G, Zhao N, Chen B, Du X, Yao M, Zou X, Zhao J, Hu Z, Eichler EE, Guo H, Xia K. Phenotype􀇦to􀇦genotype approach reveals head􀇦circumference􀇦 associated genes in an autism spectrum disorder cohort. Clinical Genetics. 2019 Nov 14;97(2):338- 346. https://doi.org/10.1111/cge.13665




2020     |     www.medigraphic.com