Acta Scientific Paediatrics (ASPE)

Case Report Volume 7 Issue 3

Disruption of POGZ and Syndromic Intellectual Disability: Report of 4 Portuguese Cases

Isabel Serra Nunes1,2,*, Jorge Diogo Da Silva1-4, Maria Abreu1, Ana Catarina Prior5, Ana Fortuna1,2, Natalia Tkachenko1,2 and Ana Rita Soares1,2

1Serviço de Genética Médica, Clínica de Genética e Patologia, Unidade Local de Saúde de Santo António Centro de Genética Médica Jacinto de Magalhães, Portugal
2UMIB-Unidade Multidisciplinar de Investigação Biomédica, ICBAS- Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Portugal; ITR-Laboratory for Integrative and Translational Research in Population Health, Portugal
3Life and Health Sciences Research Institute (ICVS), University of Minho, Campus de Gualtar, Portugal
4ICVS/3B’s, PT Government Associate Laboratory, Braga, Guimarães, Portugal - Clinical Academic Center, Braga, Portugal
5Unidade de Neurodesenvolvimento, Centro Materno-Infantil do Norte, Unidade Local de Saúde de Santo António

*Corresponding Author: Isabel Serra Nunes, 1Serviço de Genética Médica, Clínica de Genética e Patologia, Unidade Local de Saúde de Santo António Centro de Genética Médica Jacinto de Magalhães and UMIB-Unidade Multidisciplinar de Investigação Biomédica, ICBAS- Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Portugal; ITR-Laboratory for Integrative and Translational Research in Population Health, Portugal.

Received: February 22, 2024; Published: March 06, 2024

Abstract

Introduction: White-Sutton syndrome (WHSUS) is a rare monogenic, autosomal dominant neurodevelopmental disorder. The diagnosis is established in a proband with a suggestive phenotype and a heterozygous pathogenic variant in the POGZ gene. Here we report 4 unrelated Portuguese individuals with WHSUS.

Case Report: Case 1: 7-year-old boy with intellectual disability (ID), disruptive behaviour and a pathogenic variant POGZ: c.3001C>T p. (Arg1001*). Case 2: 7-year-old boy with ID and obesity and a pathogenic variant POGZ: c.1837del p. (His613Metfs*13). Case 3: 5-year-old boy with developmental delay, behavioural problems, obesity and a likely pathogenic variant POGZ: c.3624del p. (Trp1208Cysfs*20). Case 4: 9-year-old boy with ID and ASD with a variant of unknown significance in POGZ: c.2459G>A (p.C820Y).

Discussion: WHSUS is a rare and likely underdiagnosed neurodevelopmental disorder with a non-specific phenotype. The vast majority of cases have truncating variants; the role of missense variants is still unclear (associated with disruptive behaviour but not clearly associated with ID).

Keywords: White-Sutton syndrome; Phenotype; POGZ; Intellectual Disability; Variants

References

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  2. "Large-scale discovery of novel genetic causes of developmental disorders”. Nature7542 (2015): 223-228.
  3. Stessman Holly AF., et al. "Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders”. The American Journal of Human Genetics 3 (2016): 541-552.
  4. Fitzgerald TW., et al. "Large-scale Discovery of Novel Genetic Causes of Developmental Disorders”. Nature7542 (2014): 223-228.
  5. Batzir Assia N., et al. "White-Sutton Syndrome”. In Adam MP, Everman DB, Mirzaa GM., et al. "Editores. “Gene Reviews®”. Seattle (WA): University of Washington, Seattle 1993-2023. Gene Reviews®.
  6. Giraldo-Ocampo S., et al. "A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity”. The Application of Clinical Genetics 15 (2022): 63-68.
  7. Liu S., et al. "A Case of White–Sutton Syndrome Arising from a Maternally-Inherited Mutation in POGZ”. Psychiatric Genetics (2021): 135-139.
  8. Batzir N Assia., et al. "Phenotypic Expansion of POGZ-Related Intellectual Disability Syndrome (White-Sutton Syndrome)”. American Journal of Medical Genetics Part A1 (2019): 38-52.
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Citation

Citation: Isabel Serra Nunes., et al. “Disruption of POGZ and Syndromic Intellectual Disability: Report of 4 Portuguese Cases".Acta Scientific Paediatrics 7.3 (2024): 05-09.

Copyright

Copyright: © 2024 Isabel Serra Nunes., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




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