Fibroblast Growth Factor Receptor 2 (<i>FGFR2</i>) Mutation Related Syndromic Craniosynostosis

Azoury, Saïd C.; Reddy, Sashank K.; Shukla, Vivek; Deng, Chu Xia

doi:10.7150/ijbs.22373

Cited by 81 publications

(77 citation statements)

References 115 publications

(118 reference statements)

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“…S252W and P253R are common gene mutation types of FGFR2, although S252W variant is more common ( Azoury et al, 2017 ). This present case showed a fetus affected by P253R mutation, and it often associated with severe syndactyly of the feet and hands, which is confirmed in this case.…”

Section: Discussionmentioning

confidence: 99%

“…In this case, P253R mutation was a new mutation which was not present in the FGFR2 gene of his parents, thus we consider it as a spontaneous mutation, and it may play an important role in the course of the disease. Cohen et al reported that the probability of AS mutation in a single gene in each generation was about 7.8/10 6 ( Cohen et al, 1992 ), and a complex interaction of environment, epigenetics, and genetics may be involved in AS ( Azoury et al, 2017 ). Because the cases of AS are rare, so reports for Chinese people are even more precious.…”

Section: Discussionmentioning

confidence: 99%

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Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Sun

et al. 2018

Front. Genet.

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Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was identified by sanger sequencing and a mutation in the exon 7 of FGFR2 gene was detected: p.Pro253Arg (P253R) 758 C > G, which was not found in his parents.Conclusion: The baby had Apert syndrome caused by 758 C > G mutation in the exon 7 of FGFR2 gene, considering no this mutation in his parents, it was spontaneous.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Sun

et al. 2018

Front. Genet.

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“…These neural crest developmental abnormalities lead to a variety of developmental defect syndromes, overall referred to as neurocristopathies, including those that are found in cleft palate [ 3 ], Treacher Collins syndrome [ 4 ], Pierre Robin sequence [ 5 ], and craniosynostosis [ 6 ]. The coronal cranial suture is prematurely fused in many individuals with syndromic craniosynostosis, and particularly in those with mutations in FGFR2 or Twist [ 7 , 8 ]. Unlike other cranial sutures, the coronal suture develops between mesoderm-derived parietal and neural crest-derived frontal bone rudiments, and it maintains the boundary between these bone tissues of different embryonic origin during growth [ 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis

Siismets

Hatch

2020

JDB

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Craniofacial anomalies are among the most common of birth defects. The pathogenesis of craniofacial anomalies frequently involves defects in the migration, proliferation, and fate of neural crest cells destined for the craniofacial skeleton. Genetic mutations causing deficient cranial neural crest migration and proliferation can result in Treacher Collins syndrome, Pierre Robin sequence, and cleft palate. Defects in post-migratory neural crest cells can result in pre- or post-ossification defects in the developing craniofacial skeleton and craniosynostosis (premature fusion of cranial bones/cranial sutures). The coronal suture is the most frequently fused suture in craniosynostosis syndromes. It exists as a biological boundary between the neural crest-derived frontal bone and paraxial mesoderm-derived parietal bone. The objective of this review is to frame our current understanding of neural crest cells in craniofacial development, craniofacial anomalies, and the pathogenesis of coronal craniosynostosis. We will also discuss novel approaches for advancing our knowledge and developing prevention and/or treatment strategies for craniofacial tissue regeneration and craniosynostosis.

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“…Günümüzde, İnsan Genomu Mutasyon Veri Bankasında (HGMD) CS'la ilişkilendirilmiş 73 gen bildirilmektedir. CS ilişkili gen sayısı artmasına rağmen, SCS ile ilişkili genler arasında FGFR2 %32 ile ilk sırada yer alırken, bunu %25 ile FGFR3 ve %19 ile TWIST1 genleri izlemektedir (4,16). FGFR (Fibroblast Growth Factor Receptor) grubundan CS ilişkisi tanımlanmış diğer bir gen ise, FGFR1'dir.…”

Section: Introductionunclassified

Molecular Analysis of Fgfr1-3, Twist1, Msx2, Por, Frem1 and Rab23 Genes in Syndromic and Non-Syndromic Craniosynostosis Cases

Karaman¹,

Toksoy²,

Karaman³

et al. 2019

J Istanb Fac Med

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Amaç: Sendromik (SCS) ve non-sendromik kraniyosinostozlu (NSCS) olgularda, kraniyosinostoz tipleriyle ilişkilendirilmiş genlerde (FGFR1-3, TWIST1, MSX2, POR, FREM1 ve RAB23) mutasyonların araştırılması ve moleküler genetik tanı için akılcı bir akış şeması oluşturulması. Gereç ve Yöntem: İstanbul Üniversitesi, İstanbul Tıp Fakültesi, Tıbbi Genetik AD'da kromozom anomalisi dışlanmış, altısı prenatal ve 34'ü postnatal tanı alan, dokuzu NSCS ve 31'i SCS toplam 40 olgu ile 34 sağlıklı ebeveyn çalışmamıza dahil edildi. SCS'li olguların dokuzu Pfeiffer (PS), altısı Crouzon (CRS), beşi Apert (AS), yedisi Saethre-Chotzen (SaCS) ve dördü Muenke (MUS)/Saethre Chotzen (SaCS) idi. Kraniyosinostoz tipine göre mutasyonların en sık gözlendiği gen/ekzon bölgelerinden başlanarak, tüm gen ve ilişkili diğer genler aşamalı olarak Sanger dizileme yöntemi ile incelendi. Mutasyon saptanmayan olgularda incelenen genlerdeki büyük delesyon ve duplikasyonlar Multiplex Ligation-depended Probe Amplification (MLPA) yöntemi ile araştırıldı. Bulgular: Olgularımızın %50'sinde dizi analizi ile ve %2,5'unda MLPA yöntemi ile klinik bulguları destekleyen moleküler genetik sonuçlara ulaşıldı. Moleküler tanı oranı SCS grubunda %64,5, NSCS grubunda %11,1 oldu. Sonuç: Sendromik olgularda moleküler tanı oranı seri ortalamasının üzerinde idi. Birinci basamakta FGFR2 geni ekzon 7-8'de olası mutasyonlar dışlandıktan sonra, ikinci basamaktaki hedef ekzonlara (3, 5, 11, 14-17) ekzon 12 ve 13'ün ilavesi PS'de mutasyon saptama oranını %33 arttırdı. Çalışmamız, moleküler tanı alan ailelere özgün genetik danışma olanağı sağladı. CS olgularında izlenen akış şemasında Sanger dizileme ile 1. ve 2. basamak testlerden sonra mutasyon saptanmayan olguların yeni nesil dizileme tekniği ile klinik ekzom ve yüksek çözünürlüklü mikroarray çalışmasına alınmasının uygun olacağına karar verildi.

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Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis

Cited by 81 publications

References 115 publications

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis

Molecular Analysis of Fgfr1-3, Twist1, Msx2, Por, Frem1 and Rab23 Genes in Syndromic and Non-Syndromic Craniosynostosis Cases

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