Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report

Kunwar, Fulesh; Tewari, Shikha; Bakshi,

doi:10.1016/j.jobcr.2016.07.002

Cited by 11 publications

(19 citation statements)

References 11 publications

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“…Mutations in the FGFR2 gene can be found in several syndromic craniosynostoses, including Apert (OMIM 101200), Crouzon (OMIM 123500), Pfeiffer (OMIM 101600), Beare-Stevenson (OMIM 123790) and Jackson-Weiss (OMIM 123150) syndromes 1,11 . Genetic mutations in AS were discovered for the first time in 1995 by Wilkie, et al 2 ; they occur as a result of heterozygous mutations in FGFR2 gene located at 10q25.3-26 4,7 , which encodes a tyrosine kinase receptor gene that regulates multiple cellular activities, such as cell growth, differentiation, and embryonic development 13 .…”

Section: Discussionmentioning

confidence: 99%

“…Craniosynostosis is characterized by a premature sutural fusion that can occur as a sole entity or associated with other anomalies. As a syndrome, craniosynostosis is a heterogeneous condition related to more than 180 syndromes 1 . Apert syndrome (AS) (OMIM 101200) was first described in 1906 by Dr. Eugene Apert, a French pediatrician, who designed it as acrocephalosyndactyly type I 2,3 .…”

Section: Introductionmentioning

confidence: 99%

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Hallazgos clínicos y genéticos de dos casos con síndrome de Apert

Cammarata‐Scalisi¹,

Yilmaz²,

Callea³

et al. 2019

BMHIM

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Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Casereport: Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present. In both patients, a heterozygous missense mutation (c.755C>G, p.Ser252Trp) in the FGFR2 gene was identified. Conclusions: Two cases of Apert syndrome are described. It is important to recognize this uncommon entity through clinical findings, highlight interdisciplinary medical evaluation, and provide timely genetic counseling for the family.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Hallazgos clínicos y genéticos de dos casos con síndrome de Apert

Cammarata‐Scalisi¹,

Yilmaz²,

Callea³

et al. 2019

BMHIM

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“…Craniosynostosis happened because of mutation in gene fibroblast growth factor receptors (FGFR2) which can also happen in other diseases like Crouzon Syndrome, Pfeiffer Syndrome, Beare-Stevenson Syndrome, and Jackson-Weiss Syndrome. 1,3,4 Craniosynostosis can be the only abnormalities who are present, or accompanied by other. AS is a rare autosomal dominant disorder which more than 98% cases happened in de novo mutation.…”

Section: Discussionmentioning

confidence: 99%

Clinical Findings of 2-Months-Old Baby With Apert Syndrome: A Rare Case Report

Reynaldo¹,

Desiree²,

Tjakra

2019

IJMBS

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Apert Syndrome is a rare congenital disorder characterized by a premature sutural fusion that can occur as a single abnormality or associated with other anomalies. Mutations are transmitted in the paternal chromosome, which is why advanced paternal age could be a risk factor. We report a 2-months old baby boy came to the ER with shortness of breath and difficulty in nutrition intake caused by choking at home. Physical examination revealed there was more than one congenital abnormalities exist on this patient, including craniosynostosis, prominent frontal region, mid-face hypoplasia, wide set eyes (hypertelorism), downslanting palpebral fissure, ocular proptosis, low-set ears, dysplasia of both ears, symmetrical syndactyly of both fingers and toes, and cleft palate which is revealed in intra-oral examination. Early diagnosis and intervention from multidisciplinary approach is important in improving the outcome of Apert Syndrome. Keywords: Apert Syndrome, Craniosynostosis, paternal, multidisciplinary

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“…Apert syndrome mutations have been shown to follow autosomal dominant inheritance 3 , 65 , 66 . Apert syndrome is typically caused by specific missense mutations of the highly-conserved linker region between IgII and IgIII domains of FGFR2 , most often either Ser252Trp or Pro253Arg 16 , 43 , 67 - 69 . Cleft palate can also occur in this disorder, most commonly in those with Ser252Trp mutations 43 .…”

Section: Fgfr2 -Related Syndromic Craniosynostosismentioning

confidence: 99%

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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Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report

Cited by 11 publications

References 11 publications

Hallazgos clínicos y genéticos de dos casos con síndrome de Apert

Hallazgos clínicos y genéticos de dos casos con síndrome de Apert

Clinical Findings of 2-Months-Old Baby With Apert Syndrome: A Rare Case Report

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

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