A Pilot Study of Identification Genetic Background of Craniosynostosis Cases.
Journal
The Journal of craniofacial surgery
ISSN: 1536-3732
Titre abrégé: J Craniofac Surg
Pays: United States
ID NLM: 9010410
Informations de publication
Date de publication:
01 May 2021
01 May 2021
Historique:
pubmed:
1
12
2020
medline:
18
11
2021
entrez:
30
11
2020
Statut:
ppublish
Résumé
The early fusion of the cranial sutures was described as a craniosynostosis. The early diagnosis and management of craniosynostosis is very important. Environmental factors and genetic abnormalities plays a key role during the development of craniosynostosis. Syndromic craniosynostosis cases are related with autosomal dominant disorders but nearly half of the affected cases carry a new mutation. In this study, in order to identify the genetic etiology of craniosynostosis the authors analyzed 20 craniosynostosis patients by using conventional karyotype, aCGH, sanger sequencing, next generation sequencing (NGS) and Multiplex ligation-dependent probe amplification (MLPA) techniques. The authors identified mutations on FGFR2 and FGFR3 genes which were associated with Muenke syndrome, Crouzon syndrome and skeletal dysplasia syndromes. NGS applied all of the cases and 7 clinical variations in 5 different gene were detected in %20 of cases. In addition to these abnormalities; del(11)(q14.1q22.2), del(17)(q21.31), dup(22)(q13.31) and t(2;16)(q37;p13) have been identified in our cohort which are not previously detected in craniosynostosis cases. Our study demonstrates the importance of detailed genetic analysis for the diagnosis, progression and management of the craniosynostosis.
Identifiants
pubmed: 33252532
pii: 00001665-202105000-00058
doi: 10.1097/SCS.0000000000007285
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1059-1062Informations de copyright
Copyright © 2020 by Mutaz B. Habal, MD.
Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
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