Mutation c.943G&gt;T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Graul‐Neumann, Luitgard; Klopocki, Eva; Adolphs, Nicolai; Mensah, Martin A.; Kreß, Wolfram

doi:10.1159/000455028

Cited by 8 publications

(5 citation statements)

References 15 publications

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“…We suppose that tyrosine 105 replace by cysteine in the immunoglobulin-like domain of the extracellular region of FGFR2 needs to be considered as a possible site of mutation in patients with unilateral coronal and sagittal suture craniosynostosis. [32][33][34] In conclusion, the study demonstrates successful treatment of multisuture craniosynostosis, and identification of exon variants in FGFR2 gene by WES, which has further research prospect. However, the limitation of this study is the surgical method was not novel and the mutation described in this family was previously identified as pathogenic.…”

Section: Discussionmentioning

confidence: 63%

“…It is noteworthy that the same heterozygous codon mutation in FGFR2 and protein replace were both detected in them. We suppose that tyrosine 105 replace by cysteine in the immunoglobulin-like domain of the extracellular region of FGFR2 needs to be considered as a possible site of mutation in patients with unilateral coronal and sagittal suture craniosynostosis 32–34 …”

Section: Discussionmentioning

confidence: 99%

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Surgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome

Lai

Pan

Song

et al. 2021

Journal of Craniofacial Surgery

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Crouzon 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 variants in fibroblast growth factor receptor 2. Here the authors described a Crouzon syndrome case, which was asked for surgery treatment for the symptom of multisuture craniosynostosis. Mild midfacial retrusion, larger head circumference, proptosis, pseudo-prognathism, and dental malposition could also be found obviously. Then fronto-orbital advancement and cranial cavity expansion were performed to the child. After whole-exome sequencing (WES) and Sanger sequencing, gene variants in the exons 2 and 3 of FGFR2 were detected. And protein tyrosine 105 replaced by cysteine in the extracellular region of FGFR2 was also detected. After operation, she presented a satisfactory anterior plagiocephaly and scaphocephaly correction, and the result was satisfied by surgeons and her parents. Variants detected using WES have further research prospect.

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Section: Discussionmentioning

confidence: 63%

Section: Discussionmentioning

confidence: 99%

Surgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome

Lai

Pan

Song

et al. 2021

Journal of Craniofacial Surgery

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“…Other mutations identified in patients with features resembling the Crouzon/Pfeiffer syndrome include Leu617Phe mutation in the TK domain and Gly271Val in the IgIIIa domain of FGFR2 62 . A unique mutation leading to Ala315Ser in FGFR2 has also been identified in in a family with a mild phenotype of Crouzon craniofacial dyostosis but without overt craniosynostosis 63 . A report from Japan also identified a novel FGFR2 Asn549Thr mutation in a patient with Crouzon syndrome 10 .…”

Section: Fgfr2 -Related Syndromic Craniosynostosismentioning

confidence: 96%

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

Azoury¹,

Reddy²,

Shukla³

et al. 2017

Int. J. Biol. Sci.

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Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various craniosynostotic syndromes including Crouzon, Apert, Pfeiffer, Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and Seathre-Chotzen-like syndromes. The majority of these mutations are missense mutations that result in constitutive activation of the receptor and downstream molecular pathways. Treatment involves a multidisciplinary approach with ultimate surgical fixation of the cranial deformity to prevent further sequelae. Understanding the molecular mechanisms has allowed for the investigation of different therapeutic agents that can potentially be used to prevent the disorders. Further research efforts are need to better understand screening and effective methods of early intervention and prevention. Herein, the authors provide a comprehensive update on FGFR2-related syndromic craniosynostosis.

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“…16,17 No clear link between phenotype and genotype has been identified yet. 18 Phenotypic variability is depending on genetic homozygosity. Increasing homozygosity may be responsible for more severe phenotypic expression.…”

Section: Genetic Disordermentioning

confidence: 99%

“…19 A family with a mild phenotype, in which the FGFR2 mutation c.943G > T result in substitution of the amino acid p. Ala315Ser, was also detected by Graul-Neumann and his coworker. 18 A mutation that has been identified just recently, c.812G > T, (p.Gly271Val) or c.1851G > C, (p.Leu617Phe) was described. This novel mutation arose de novo which resulted in craniofacial characteristics resembling Pfeiffer/Crouzon syndrome.…”

Section: Genetic Disordermentioning

confidence: 99%

Crouzon syndrome: Genetic and intervention review

Al-Namnam

Hariri

Thong

et al. 2019

Journal of Oral Biology and Craniofacial Research

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Crouzon syndrome exhibits considerable phenotypic heterogeneity, in the aetiology of which genetics play an important role. mediates extracellular signals into cells and the mutations in the gene cause this syndrome occurrence. Activated signaling disrupts the balance of differentiation, cell proliferation, and apoptosis via its downstream signal pathways. However, very little is known about the cellular and molecular factors leading to severity of this phenotype. Revealing the molecular pathology of craniosynostosis will be a great value for genetic counselling, diagnosis, prognosis and early intervention programs. This mini-review summarizes the fundamental and recent scientific literature on genetic disorder of Crouzon syndrome and presents a graduated strategy for the genetic approach, diagnosis and the management of this complex craniofacial defect.

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Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Cited by 8 publications

References 15 publications

Surgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome

Surgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome

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

Crouzon syndrome: Genetic and intervention review

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