Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation

2019 ◽  
Vol 87 (6) ◽  
pp. 469-470
Author(s):  
Manisha Goyal ◽  
Ashok Gupta ◽  
Seema Kapoor ◽  
Anu Bhandari
Keyword(s):  
Gene Mutation ◽  
Apert Syndrome ◽  
Preaxial Polydactyly ◽  
Fgfr2 Gene

A Novel FGFR2 Gene Mutation in Crouzon Syndrome Associated with Apparent Nonpenetrance

1999 ◽  
Vol 36 (6) ◽  
pp. 533-541 ◽  
Author(s):  
Eric T. Everett ◽  
Denis A. Britto ◽  
Richard E. Ward ◽  
James K. Hartsfield
Keyword(s):  
Gene Mutation ◽  
Crouzon Syndrome ◽  
Fgfr2 Gene

scholarly journals Acne Syndromes and Mosaicism

Biomedicines ◽  
2021 ◽  
Vol 9 (11) ◽  
pp. 1735
Author(s):  
Sumer Baroud ◽  
Jim Wu ◽  
Christos C. Zouboulis
Keyword(s):  
Polycystic Ovarian Syndrome ◽  
Somatic Mosaicism ◽  
Apert Syndrome ◽  
Adrenal Hyperplasia ◽  
Inflammatory Signaling ◽  
Autoinflammatory Syndromes ◽  
Fgfr2 Gene ◽  
Cutaneous Mosaicism ◽  
Inflammatory Changes ◽  
Ovarian Syndrome

Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and nonsegmental somatic mosaicism. Acne is a chronic illness characterized by inflammatory changes around and in the pilosebaceous units, commonly due to hormone- and inflammatory signaling-mediated factors. Several systemic disorders, such as congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome have classically been associated with acne. Autoinflammatory syndromes, including PAPA, PASH, PAPASH, PsAPASH, PsaPSASH, PASS, and SAPHO syndromes include acneiform lesions as a key manifestation. Mosaic germline mutations in the FGFR2 gene have been associated with Apert syndrome and nevus comedonicus, two illnesses that are accompanied by acneiform lesions. In this review, we summarize the concept of cutaneous mosaicism and elaborate on acne syndromes, as well as acneiform mosaicism.

scholarly journals Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation

2021 ◽  
Author(s):  
Chandra Bhan Singh ◽  
Biswajit Mishra ◽  
Rashmi Patel ◽  
Ashok Kumar ◽  
Akhtar Ali
Keyword(s):  
Autosomal Dominant ◽  
Growth Factor Receptor ◽  
Sporadic Case ◽  
Apert Syndrome ◽  
Nasal Bridge ◽  
Craniofacial Dysmorphism ◽  
Fgfr2 Gene ◽  
Craniofacial Features ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

scholarly journals AB037. The first case of Beare-Stevenson cutis gyrata syndrome with an FGFR2 gene mutation (Tyr375Cys) in Thailand

2017 ◽  
Vol 5 (S2) ◽  
pp. AB037-AB037
Author(s):  
Khunton Wichajarn ◽  
Pakaphan Kiatchoosakul ◽  
Ratana Komwilaisak
Keyword(s):  
Gene Mutation ◽  
First Case ◽  
Fgfr2 Gene

Mutations in the FGFR2 gene in Mexican patients with Apert syndrome

2015 ◽  
Vol 14 (1) ◽  
pp. 2341-2346 ◽  
Author(s):  
A. Ibarra-Arce ◽  
G. Ortiz de Zárate-Alarcón ◽  
L.G. Flores-Peña ◽  
F. Martínez-Hernández ◽  
M. Romero-Valdovinos ◽  
...  
Keyword(s):  
Apert Syndrome ◽  
Fgfr2 Gene ◽  
Mexican Patients

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

1998 ◽  
Vol 76 (4) ◽  
pp. 362-364 ◽  
Author(s):  
Anna Krepelov� ◽  
Alice Baxov� ◽  
Pavel Calda ◽  
Richard Plavka ◽  
Jan Kapras
Keyword(s):  
Gene Mutation ◽  
Fgfr2 Gene

scholarly journals Apert syndrome: a case report

2015 ◽  
Vol 04 (03) ◽  
pp. 145-148
Author(s):  
Barman A. ◽  
Dutta BC ◽  
Sarkar JK
Keyword(s):  
Rare Condition ◽  
Open Bite ◽  
Apert Syndrome ◽  
Anterior Open Bite ◽  
Maxillary Hypoplasia ◽  
X Ray ◽  
Fgfr2 Gene ◽  
History Of ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births. A three year old boy was brought with a history of facial, hand and feet deformities to the Pediatrics out patient department. On examination, he had symmetric syndactyly of the hands and feet. He also had craniosynostosis with deformed skull. This patient also exhibited midface hypoplasia, exophthahnia, ocular hypertelorism and high arch palate. Crowding of the teeth, malocclusion with anterior open bite is also found. The X-ray of the hand and feet showed skeletal fusion of phalanges (complex syndactyly). The case represents a rare condition where there is a mutation in the FGFR2 gene causing Apert syndrome.

PIN1 Attenuation Improves Midface Hypoplasia in a Mouse Model of Apert Syndrome

2019 ◽  
Vol 99 (2) ◽  
pp. 223-232 ◽  
Author(s):  
B. Kim ◽  
H. Shin ◽  
W. Kim ◽  
H. Kim ◽  
Y. Cho ◽  
...  
Keyword(s):  
Mouse Model ◽  
Therapeutic Option ◽  
Three Dimensional ◽  
Cranial Base ◽  
Apert Syndrome ◽  
Downstream Signaling ◽  
Syndromic Craniosynostosis ◽  
Midface Hypoplasia ◽  
Fgfr2 Gene ◽  
Anterior Posterior

Premature fusion of the cranial suture and midface hypoplasia are common features of syndromic craniosynostosis caused by mutations in the FGFR2 gene. The only treatment for this condition involves a series of risky surgical procedures designed to correct defects in the craniofacial bones, which must be performed until brain growth has been completed. Several pharmacologic interventions directed at FGFR2 downstream signaling have been tested as potential treatments for premature coronal suture fusion in a mouse model of Apert syndrome. However, there are no published studies that have targeted for the pharmacologic treatment of midface hypoplasia. We used Fgfr2S252W/+ knock-in mice as a model of Apert syndrome and morphometric analyses to identify causal hypoplastic sites in the midface region. Three-dimensional geometric and linear analyses of Fgfr2S252W/+ mice at postnatal day 0 demonstrated distinct morphologic variance. The premature fusion of anterior facial bones, such as the maxilla, nasal, and frontal bones, rather than the cranium or cranial base, is the main contributing factor toward the anterior-posterior skull length shortening. The cranial base of the mouse model had a noticeable downward slant around the intersphenoid synchondrosis, which is related to distortion of the airway. Within a skull, the facial shape variance was highly correlated with the cranial base angle change along Fgfr2 S252W mutation–induced craniofacial anomalies. The inhibition of an FGFR2 downstream signaling enzyme, PIN1, via genetic knockdown or use of a PIN1 inhibitor, juglone, attenuated the aforementioned deformities in a mouse model of Apert syndrome. Overall, these results indicate that FGFR2 signaling is a key contributor toward abnormal anterior-posterior dimensional growth in the midface region. Our study suggests a novel therapeutic option for the prevention of craniofacial malformations induced by mutations in the FGFR2 gene.

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