期刊
JOURNAL OF CRANIOFACIAL SURGERY
卷 32, 期 3, 页码 1059-1062出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/SCS.0000000000007285
关键词
aCGH; craniosynostosis; Multiplex ligation-dependent probe amplification; Next generation sequencing
类别
Craniosynostosis is a genetic disorder that requires early diagnosis and genetic analysis for effective treatment and management. This study utilized various techniques to analyze the genetic etiology of craniosynostosis, identifying mutations in specific genes associated with syndromes. Detailed genetic analysis is crucial for determining the cause of the disease and guiding treatment strategies.
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.
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