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Journal of Genetics

, 98:34 | Cite as

Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

  • Azubel Ramírez-Velazco
  • Thania Alejandra Aguayo-Orozco
  • Luis Figuera
  • Horacio Rivera
  • Luis Jave-Suárez
  • Adriana Aguilar-Lemarroy
  • Luis A. Torres-Reyes
  • Carlos Córdova-Fletes
  • Patricio Barros-Núñez
  • Saturnino Delgadillo-Pérez
  • Ingrid Patricia Dávalos-Rodríguez
  • José Elías García-Ortiz
  • María G. DomínguezEmail author
Research Article
  • 26 Downloads

Abstract

Williams–Beuren syndrome (WBS) has a prevalence of 1/7500–20000 live births and results principally from a de novo deletion in 7q11.23 with a length of 1.5 Mb or 1.8 Mb. This study aimed to determine the frequency of 7q11.23 deletion, size of the segment lost, and involved genes in 47 patients with a clinical diagnosis of WBS and analysed by fluorescence in situ hybridization (FISH); among them, 31 had the expected deletion. Micro-array comparative genomic hybridization (aCGH) confirmed the loss in all 18 positive-patients tested: 14 patients had a 1.5 Mb deletion with the same breakpoints at 7q11.23 (hg19: 72726578–74139390) and comprising 24 coding genes from TRIM50 to GTF2I. Four patients showed an atypical deletion: two had a 1.6 Mb loss encompassing 27 coding genes, from NSUN5 to GTF2IRD2; another had a 1.7 Mb deletion involving 27 coding genes, from POM121 to GTF2I; the remaining patient presented a deletion of 1.2 Mb that included 21 coding genes from POM121 to LIMK1. aCGH confirmed the lack of deletion in 5/16 negative-patients by FISH. All 47 patients had the characteristic facial phenotype of WBS and 45 of 47 had the typical behavioural and developmental abnormalities. Our observations further confirm that patients with a classical deletion present a typical WBS phenotype, whereas those with a high (criteria of the American Association of Pediatrics, APP) clinical score but lacking the expected deletion may harbour an ELN point mutation. Overall, the concomitant CNVs appeared to be incidental findings.

Keywords

deletion 7q11.23 Williams–Beuren syndrome supra-valvular aortic stenosis micro-array comparative genomic hybridization fluorescence in situ hybridization 

Notes

Acknowledgements

We thank the patients and parents for their invaluable co-operation, in addition to MD. Ana I. Vázquez-Velásquez for technical support. This work was supported by FIS/IMSS/PROT/MD14/1352 del Instituto Mexicano del Seguro Social.

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Copyright information

© Indian Academy of Sciences 2019

Authors and Affiliations

  1. 1.División de Genética, CIBOInstituto Mexicano del Seguro SocialGuadalajaraMéxico
  2. 2.Doctorado en Genética Humana, CUCSUniversidad de GuadalajaraGuadalajaraMéxico
  3. 3.División de Inmunología, CIBOInstituto Mexicano del Seguro SocialGuadalajaraMéxico
  4. 4.Departamento de Biología Molecular y Genómica, CUCSUniversidad de GuadalajaraGuadalajaraMéxico
  5. 5.Departamento de Bioquímica y Medicina Molecular, Facultad de MedicinaUniversidad Autónoma de Nuevo LeónMonterrey México
  6. 6.Departamento de Cardiología, Hospital de Pediatría, Centro Médico Nacional de OccidenteInstituto Mexicano del Seguro SocialGuadalajaraMéxico

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