Autism in patients with Williams-Beuren syndrome: A re-evaluation of 31 Tunisian patients’ phenotype-Reference-Cited by-同舟云学术

Autism in patients with Williams-Beuren syndrome: A re-evaluation of 31 Tunisian patients’ phenotype

Published:2022-10-17 Issue: Volume: Page:
ISSN:
Container-title:
language:
Short-container-title:

Author:

Mougou-Zerelli Soumaya¹,Khelifi Rim²,Jelloul Afef³,Ajmi Houda⁴,Dimassi Sarra¹,Slimani Wafa¹,Soyeh Najla⁵,Rjiba Khouloud²,Dardour Manel⁶,Abdallah Hamza Hadj³,Dridi Hend⁴,Guedria Asma⁷,Kammoun Molka³,Khelifa Hela Ben³,Mkadem Hayet⁸,Guidara Ines Hssairi⁹,Hamida Hayet Ben¹⁰,Helel Khaled Ben⁸,Kharrat Habib⁸,Sboui Essia⁸,Naffeti Elies¹¹,Gaddour Naoufel⁷,Maatouk Faouzi¹²,Ghezal Hatem El³,Saad Ali¹,Nouira Ons¹³,Zouari Afif¹⁴

Affiliation:

1. Laboratory of Human cytogenetics, Molecular Genetics, and Biology of Reproduction, Farhat Hached University Hospital, Sousse, Common Service Units for Research in Genetics, Faculty of Medicine of Sous

2. : Laboratory of Human cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Hospital, Sousse, Tunisia; Common Service Units for Research in Genetics , Faculty of Medi

3. Laboratory of Human cytogenetics, Molecular Genetics, and Biology of Reproduction, Farhat Hached University Hospital, Sousse, Tunisia

4. Pediatric Department, Sahloul University Hospital Sousse

5. Paediatric Department, CHU Farhat Hached Sousse,

6. Pedo psychiatrist, private practice Sousse

7. Psychiatry Department, Fattouma Bourguiba University Hospital Monastir

8. Paediatric Department, Regional Hospital Ibn El Jazzar Kairouan

9. Neuropediatric Department, CHU Hedi Chaker Sfax

10. Neonatology Center and Maternity Monastir

11. Cardiology Department, Sahloul University Hospital Sousse

12. Cardiology Department, Fatouma Bourguiba University Hospital Monastir

13. Pedopsychiatrist, private practice Sousse

14. Paediatrician, Private practice Mahdia,

Abstract

Abstract Background Williams Beuren Syndrome is a multisystemic disorder manifested by congenital heart defects associated with dysmorphic features, intellectual delay, and a particular behavioural profile due to a microdeletion in 7q11.2. Methods To establish a genotype-phenotype correlation; we carried out a molecular cytogenetic analysis on 31 Tunisian WBS patients using the CGH-array and FISH techniques. Results 6 patients were investigated by CGH-array. All of them had a typical WBS deletion ranging from 1.4Mb to 1.7Mb. Curiously in 2 patients autistic spectrum disorders were noted in contrast to the behavioural profile generally observed in the other patients which are characterized by good contact. If we analyse the distal region of the generally deleted region, we found that the HIP1 gene is included. HIP1 encodes a central nervous system expressed protein and is considered the candidate gene for autism in this region. Conclusion Considering the presence of autism, a CGH analysis is essential to determine the exact etiology of this disorder, which seems strange for this syndrome, but is becoming progressively frequent. We suggest that alteration of the HIP1 gene could be indirectly responsible for autism, but specific environmental factors might act as risk factors triggering the development of this trait...

Publisher

Research Square Platform LLC

Reference22 articles.

1. « Williams-Beuren syndrome in 47 Mexican patients, including 31 confirmed by FISH and 18 assessed by aCGH »;Ramírez-Velazco A

2. « Congenital heart defects in Williams syndrome »;Yuan SM;Turk J Pediatr,2017

3. Debelle L, et al, « Elastin: molecular description and function », Int. J. Biochem. Cell Biol., vol. 31, no 2, p. 261–272, févr. 1999, DOI: 10.1016/S1357-2725(98)00098-3.

4. « Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome »;Ewart AK;Nat Genet,1993

5. Schubert C, et al, « The genomic basis of the Williams – Beuren syndrome », Cell. Mol. Life Sci., vol. 66, no 7, p. 1178–1197, avr. 2009, doi: 10.1007/s00018-008-8401-y.