Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome

Introduction:Apert syndrome (AS) is a craniosynostosis conditioncaused by mutations in the Fibroblast Growth Factor Receptor 2(FGFR2) gene. Clinical features include cutaneous and osseoussymmetric syndactily in hands and feet, with variable presentations inbones, brain, skin and other internal organs.Methods:Members of two families with an index case of ApertSyndrome were assessed to describe relevant clinical features andmolecular analysis (sequencing and amplification) of exons 8, 9 and10 of FGFR2 gen.Results: Family 1 consists of the mother, the index case and half-brother who has a cleft lip and palate. In this family we found asingle FGFR2 mutation, S252W, in the sequence of exon 8. Althoughmutations were not found in the study of the patient affected with cleftlip and palate, it is known that these diseases share signaling pathways,allowing suspected alterations in shared genes. In the patient of family2, we found a sequence variant T78.501A located near the splicingsite, which could interfere in this process, and consequently with theprotein function

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Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-019-2173-x ◽

2019 ◽

Vol 13 (1) ◽

Cited By ~ 1

Author(s):

Gara Samara Brajadenta ◽

Ariestya Indah Permata Sari ◽

Donny Nauphar ◽

Tiar Masykuroh Pratamawati ◽

Vincent Thoreau

Keyword(s):

Case Report ◽

Growth Factor ◽

Fibroblast Growth Factor ◽

Molecular Analysis ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Apert Syndrome ◽

Fibroblast Growth ◽

Fgfr2 Gene

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Clinical Features and Treatment Response in Immune-Mediated Small Fiber Neuropathy with Trisulfated Heparin Disaccharide or Fibroblast Growth Factor Receptor 3 Antibodies

Journal of Clinical Neuromuscular Disease ◽

10.1097/cnd.0000000000000355 ◽

2021 ◽

Vol 22 (4) ◽

pp. 192-199

Author(s):

Lawrence A. Zeidman ◽

Konrad Kubicki

Keyword(s):

Growth Factor ◽

Treatment Response ◽

Fibroblast Growth Factor ◽

Clinical Features ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Small Fiber Neuropathy ◽

Fibroblast Growth ◽

Small Fiber ◽

Immune Mediated

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Frequency of Fibroblast Growth Factor Receptor 1 gene amplification in oral tongue squamous cell carcinomas and associations with clinical features and patient outcome

Oral Oncology ◽

10.1016/j.oraloncology.2013.01.006 ◽

2013 ◽

Vol 49 (6) ◽

pp. 576-581 ◽

Cited By ~ 25

Author(s):

Richard J. Young ◽

Annette M. Lim ◽

Christopher Angel ◽

Marnie Collins ◽

Siddhartha Deb ◽

...

Keyword(s):

Patient Outcome ◽

Growth Factor ◽

Fibroblast Growth Factor ◽

Gene Amplification ◽

Clinical Features ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Squamous Cell Carcinomas ◽

Fibroblast Growth ◽

Oral Tongue

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Clinical features with anti fibroblast growth factor receptor 3 (FGFR3) antibody-related polyneuropathy: a retrospective study

BMC Neurology ◽

10.1186/s12883-021-02090-2 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Elanagan Nagarajan ◽

Seung Ah Kang ◽

Carmen Holmes ◽

Raghav Govindarajan

Keyword(s):

Growth Factor ◽

Fibroblast Growth Factor ◽

Clinical Features ◽

Fibroblast Growth Factor Receptor ◽

Axonal Neuropathy ◽

Growth Factor Receptor ◽

Categorical Variables ◽

Fibroblast Growth ◽

Continuous Variables ◽

Presenting Symptoms

Abstract Background Despite its initial association with sensory neuropathies, anti-fibroblast growth factor receptor 3 (FGFR3) antibodies have been since reported with a broad range of neuropathies and clinical features. The aim of the study is to report the clinical and electro diagnostic findings in a cohort of patients with sensory or sensorimotor polyneuropathy and anti-FGFR3 antibodies. Methods We performed a retrospective chart review to assess the clinical characteristics of patients with sensory or sensorimotor neuropathy related to FGFR3 antibodies. Descriptive statistics were reported using frequencies and percentages for categorical variables and median and interquartile range (IQR) for continuous variables. Results This study included 14 patients (9 women) with a median age of 51.9 years (IQR 48–57). The most common presenting symptoms were painful paresthesia (100%), gait instability (42.9%), constitutional symptoms (42.9%), and autonomic symptoms (28.6%). Onset of symptoms was chronic (≥12 weeks) in eight patients (57.1%). Examination showed a distal loss of sensation to pin prick (100%), as well as impaired vibration sensation (78.6%) and proprioception (35.7%), in the distal extremities. We also observed mild weakness in the distal lower-extremities (42.9%). Three patients (21.4%) had trigeminal neuralgia, three patients (21.4%) had co-existing autoimmune disease, and one patient (7.1%) had a history of renal cell carcinoma. The mean titer of FGFR3 antibody was 14,285.71 (IQR 5000–16,750). All 14 patients produced normal results in the neuropathy workup. Nerve conduction study and electromyography showed sensory axonal neuropathy in four patients (28.6%), sensorimotor axonal neuropathy in seven patients (50%), and a normal result in three patients (21.4%). For those with a normal NCS/EMG, a skin biopsy showed a non-length-dependent small fiber neuropathy. Conclusions Neuropathy related to FGFR3 antibodies can potentially involve small and large fibers, sensory and motor fibers, and even the trigeminal nerve, which contributes to a highly variable clinical presentation.

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