Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

Nur, Banu; Pehlivanoğlu, Süray; Mıhçı, Ercan; Çalışkan, Mualla Ö.; Demir, Durkadin; Alper, Özgül M.; Kayserili, Hülya; Lülecı, Güven

doi:10.1016/j.pediatrneurol.2014.01.023

Cited by 19 publications

(15 citation statements)

References 27 publications

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“…The etiology of craniosynostosis includes both genetic factors and environmental interference. In recent years, as the application of exome and genome sequencing, mutations of several genes have been identified 20-22. As for the syndromic craniosynostosis, up till now, over 180 syndromes have been identified to be related to the syndromic craniosynostosis, and specific gene mutations or chromosome abnormalities have been checked out over 20% of all cases 13, 23, 24.…”

Section: Introductionmentioning

confidence: 99%

Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis

2019

Int. J. Biol. Sci.

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Craniosynostosis, is the premature fusion of one or more cranial sutures which is the second most common cranial facial anomalies. The premature cranial sutures leads to deformity of skull shape and restricts the growth of brain, which might elicit severe neurologic damage. Craniosynostosis exhibit close correlations with a varieties of syndromes. During the past two decades, as the appliance of high throughput DNA sequencing techniques, steady progresses has been made in identifying gene mutations in both syndromic and nonsyndromic cases, which allow researchers to better understanding the genetic roles in the development of cranial vault. As the enrichment of known mutations involved in the pathogenic of premature sutures fusion, multiple signaling pathways have been investigated to dissect the underlying mechanisms beneath the disease. In addition to genetic etiology, environment factors, especially mechanics, have also been proposed to have vital roles during the pathophysiological of craniosynostosis. However, the influence of mechanics factors in the cranial development remains largely unknown. In this review, we present a brief overview of the updated genetic mutations and environmental factors identified in both syndromic and nonsyndromic craniosynostosis. Furthermore, potential molecular signaling pathways and its relations have been described.

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Section: Introductionmentioning

confidence: 99%

Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis

2019

Int. J. Biol. Sci.

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“…It is known that seizures occur in 12% of CS patients, and epilepsy was detected in familial cases with p.W290R mutation (Nur et al, ). Furthermore, PS patient with heterozygous p.W290R mutation showed infrequent findings, including hydronephrosis, sacrococcygeal appendage, and early death (Lai, Tan, Law, & Yeow, ; Nur et al, ).…”

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confidence: 99%

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome

Machado

Ferreira

Martins

et al. 2017

American J of Med Genetics Pt A

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“…It has been reported that the p.Ser252Trp mutation is responsible for 71% of cases and the p.Pro253Arg mutation accounts for 26% of cases (2). Similarly, the p.Ser252Trp mutation was found more frequently in Turkish patients in a study conducted by Nur et al (3). Six new mutations leading to AS have been defined up to the present time in addition to these mutations, which are frequently observed in the FGFR2 gene (4).…”

Section: Discussionmentioning

confidence: 96%