Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion

Imagem de Miniatura
Arquivos
art_MONTENEGRO_Expanding_the_Phenotype_of_8p231_Deletion_Syndrome_Eight_2023.PDF (210.45 KB)
Citações na Scopus
1
Tipo de produção
article
Data de publicação
2023
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
MOSBY-ELSEVIER
Autores
CAMILOTTI, Debora
QUAIO, Caio Robledo D'Anglioli Costa
Citação
JOURNAL OF PEDIATRICS, v.252, p.56-+, 2023
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Objective To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting 8 patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum of 22q11.2DS. Study design This report is part of a previous study that aims to provide a precocious molecular diagnosis of the 22q11.2 deletion syndrome in 118 infants with congenital heart disease. To confirm the clinical diagnosis, patients underwent comparative genomic screening by the multiplex ligation-dependent probe amplification (MLPA) assay with the SALSA MLPA probemix kits P064-B2, P036-E1, P070-B2, P356-A1, and P250-B1. Subsequently, the patients performed the genomic microarray using the Infinium CytoSNP-850K BeadChip to confirm the deletion, determine the breakpoints of the deletion, and search for genomic copy number variations. Results MLPA performed with 3 different kits revealed the 8p23.1 typical deletion involving the PPP1R3B, MSRA, and GATA4 genes in the 5 patients. The array analysis was performed on these 5 patients and 3 other patients (8 patients) who also had clinical suspicion of 22q11 deletion (8 patients) allowed a precise definition of the breakpoints and excluded other genomic abnormalities. Conclusions Cytogenomic screening was efficient in establishing a differential diagnosis and ruling out the presence of other concomitant syndromes. The clinical picture of the 8p23.1 deletion syndrome is challenging; however, cytogenomic tools can provide an exact diagnosis and help to clarify the genotype-phenotype complexity of these patients. Our reports underline the importance of early diagnosis and clinical follow-up of microdeletion syndromes.
Palavras-chave
URI
https://observatorio.fm.usp.br/handle/OPI/54759
Referências
  1. Akcakaya NH, 2017, EPILEPTIC DISORD, V19, P217, DOI 10.1684/epd.2017.0906
  2. Al-Yassin A, 2018, EUR J HUM GENET, V26, P1288, DOI 10.1038/s41431-018-0166-7
  3. Aziz N, 2015, ARCH PATHOL LAB MED, V139, P481, DOI 10.5858/arpa.2014-0250-CP
  4. Ballarati L, 2011, EUR J MED GENET, V54, P55, DOI 10.1016/j.ejmg.2010.10.003
  5. Belangero Sintia Iole Nogueira, 2009, Arq. Bras. Cardiol., V92, P307, DOI 10.1590/S0066-782X2009000400010
  6. Ben Khelifa H, 2015, J PEDIATR GENET, V4, P187, DOI 10.1055/s-0035-1565269
  7. Burnside RD, 2013, AM J MED GENET A, V161A, P822, DOI 10.1002/ajmg.a.35699
  8. Claeys I, 1997, AM J MED GENET, V74, P515, DOI 10.1002/(SICI)1096-8628(19970919)74:5<515::AID-AJMG12>3.0.CO;2-F
  9. Cooley LD, 2013, GENET MED, V15, P484, DOI 10.1038/gim.2013.49
  10. Devriendt K, 1999, AM J HUM GENET, V64, P1119, DOI 10.1086/302330
  11. Faivre L, 1998, PRENATAL DIAG, V18, P1055, DOI 10.1002/(SICI)1097-0223(1998100)18:10<1055::AID-PD405>3.0.CO;2-I
  12. Firth HV, 2009, AM J HUM GENET, V84, P524, DOI 10.1016/j.ajhg.2009.03.010
  13. FRYNS JP, 1989, ANN GENET-PARIS, V32, P171
  14. Gillis LA, 2004, AM J HUM GENET, V75, P610, DOI 10.1086/424698
  15. Longoni M, 2012, AM J MED GENET A, V158A, P3148, DOI 10.1002/ajmg.a.35665
  16. MacDonald JR, 2014, NUCLEIC ACIDS RES, V42, pD986, DOI 10.1093/nar/gkt958
  17. Moffatt P, 2013, AM J HUM GENET, V92, P252, DOI 10.1016/j.ajhg.2012.12.001
  18. Molck MC, 2017, J PEDIAT-BRAZIL, V93, P497
  19. Mullegama SV, 2016, EUR J HUM GENET, V24, P1235, DOI 10.1038/ejhg.2016.35
  20. Richards S, 2015, GENET MED, V17, P405, DOI 10.1038/gim.2015.30
  21. Riggs ER, 2020, GENET MED, V22, P245, DOI 10.1038/s41436-019-0686-8
  22. Shao L, 2021, GENET MED, V23, P1818, DOI 10.1038/s41436-021-01214-w
  23. Shimokawa O, 2005, AM J MED GENET A, V136A, P49, DOI 10.1002/ajmg.a.30778
  24. Singh G, 2011, BMC CANCER, V11, DOI 10.1186/1471-2407-11-490
  25. South ST, 2013, GENET MED, V15, P901, DOI 10.1038/gim.2013.129
  26. Tanaka AJ, 2015, AM J HUM GENET, V97, P457, DOI 10.1016/j.ajhg.2015.07.014
  27. Wat MJ, 2009, AM J MED GENET A, V149A, P1661, DOI 10.1002/ajmg.a.32896
  28. Wen JD, 2019, MOL CYTOGENET, V12, DOI 10.1186/s13039-019-0424-6
  29. Wu BL, 1996, AM J MED GENET, V62, P77, DOI 10.1002/(SICI)1096-8628(19960301)62:1<77::AID-AJMG16>3.0.CO;2-S
  30. Yu SH, 2010, EUR J HUM GENET, V18, P1114, DOI 10.1038/ejhg.2010.66
  31. Zanardo EA, 2017, CLINICS, V72, P526, DOI 10.6061/clinics/2017(09)02

Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/03
Artigos e Materiais de Revistas Científicas - LIM/36
Artigos e Materiais de Revistas Científicas - ODS/03