A novel AXIN2 gene mutation in sagittal synostosis

The bones of the skull are held together by fibrous joints called sutures. Premature fusion of these sutures leads to a pathologic condition called as craniosynostosis. Although at least 50 nuclear genes including FGFR2, TWIST1, TCF12, and SMAD6 were identified as causative of craniosynostosis; only...

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Published inAmerican journal of medical genetics. Part A Vol. 176; no. 9; pp. 1976 - 1980
Main Authors Yilmaz, Elanur, Mihci, Ercan, Guzel Nur, Banu, Alper, Ozgul M.
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.09.2018
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Abstract The bones of the skull are held together by fibrous joints called sutures. Premature fusion of these sutures leads to a pathologic condition called as craniosynostosis. Although at least 50 nuclear genes including FGFR2, TWIST1, TCF12, and SMAD6 were identified as causative of craniosynostosis; only 25% of the patients can be genetically diagnosed. Here, we report a 3‐year‐old Turkish Caucasian boy with sagittal craniosynostosis with a de novo loss‐of‐function mutation in exon 4 of the AXIN2 gene for the first time. The patient has frontal bossing, high anterior hair line, depressed nasal bridge, bilateral epicanthus and low set ears which are correlated with his scaphocephaly. As a negative regulator of the Wnt signaling pathway which is one of the key modulators of craniosynostosis syndrome, it has been shown in model organisms that Axin2 orchestrates the regulation of beta‐catenin especially in the intramembranous ossification process. This clinical report adds value to the literature that AXIN2 gene mutations could be a potential cause in human calvarial malformations, especially for the sagittal synostosis.
AbstractList The bones of the skull are held together by fibrous joints called sutures. Premature fusion of these sutures leads to a pathologic condition called as craniosynostosis. Although at least 50 nuclear genes including FGFR2, TWIST1, TCF12, and SMAD6 were identified as causative of craniosynostosis; only 25% of the patients can be genetically diagnosed. Here, we report a 3‐year‐old Turkish Caucasian boy with sagittal craniosynostosis with a de novo loss‐of‐function mutation in exon 4 of the AXIN2 gene for the first time. The patient has frontal bossing, high anterior hair line, depressed nasal bridge, bilateral epicanthus and low set ears which are correlated with his scaphocephaly. As a negative regulator of the Wnt signaling pathway which is one of the key modulators of craniosynostosis syndrome, it has been shown in model organisms that Axin2 orchestrates the regulation of beta‐catenin especially in the intramembranous ossification process. This clinical report adds value to the literature that AXIN2 gene mutations could be a potential cause in human calvarial malformations, especially for the sagittal synostosis.
The bones of the skull are held together by fibrous joints called sutures. Premature fusion of these sutures leads to a pathologic condition called as craniosynostosis. Although at least 50 nuclear genes including FGFR2 , TWIST1 , TCF12 , and SMAD6 were identified as causative of craniosynostosis; only 25% of the patients can be genetically diagnosed. Here, we report a 3‐year‐old Turkish Caucasian boy with sagittal craniosynostosis with a de novo loss‐of‐function mutation in exon 4 of the AXIN2 gene for the first time. The patient has frontal bossing, high anterior hair line, depressed nasal bridge, bilateral epicanthus and low set ears which are correlated with his scaphocephaly. As a negative regulator of the Wnt signaling pathway which is one of the key modulators of craniosynostosis syndrome, it has been shown in model organisms that Axin2 orchestrates the regulation of beta‐catenin especially in the intramembranous ossification process. This clinical report adds value to the literature that AXIN2 gene mutations could be a potential cause in human calvarial malformations, especially for the sagittal synostosis.
Author Guzel Nur, Banu
Yilmaz, Elanur
Alper, Ozgul M.
Mihci, Ercan
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Issue 9
Keywords Wnt signaling
craniosynostosis
genetics
AXIN2
craniofacial disorders
sagittal synostosis
Language English
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Snippet The bones of the skull are held together by fibrous joints called sutures. Premature fusion of these sutures leads to a pathologic condition called as...
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pubmed
wiley
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Publisher
StartPage 1976
SubjectTerms Alleles
Axin Protein - genetics
AXIN2
Child, Preschool
Chromosomes, Human, Pair 17
Cranial sutures
craniofacial disorders
Craniosynostoses - diagnosis
Craniosynostoses - genetics
Craniosynostosis
DNA Mutational Analysis
Dysostosis
Fibroblast growth factor receptor 2
Genetic Association Studies - methods
genetics
Genotype
Humans
Karyotype
Loss of Function Mutation
Male
Mutation
Ossification
Pedigree
Phenotype
Point mutation
sagittal synostosis
Signal transduction
Skull
Turkey
Wnt protein
Wnt signaling
Title A novel AXIN2 gene mutation in sagittal synostosis
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fajmg.a.40373
https://www.ncbi.nlm.nih.gov/pubmed/30088857
https://www.proquest.com/docview/2110444834
https://search.proquest.com/docview/2085658868
Volume 176
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