Sudden infant death in a patient with <i>FGFR3</i> P250R mutation

Shah, Parita; Siriwardena, Komudi; Taylor, Glenn; Steele, Leslie; Ray, Peter N.; Blasér, Susan; Chitayat, David

doi:10.1002/ajmg.a.31517

Cited by 11 publications

(6 citation statements)

References 13 publications

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“…In addition, apnea may also be caused by structural anomalies of the midface and nasal passages in individuals with Muenke syndrome (e.g., midface hypoplasia, choanal atresia, and narrowed nasal passages). To date, one report described sudden death in a patient with Muenke syndrome [30]. On autopsy, this patient exhibited narrowed airway spaces, although no gross cerebral abnormalities were evident.…”

Section: Discussionmentioning

confidence: 99%

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Agochukwu¹,

Solomon²,

Gropman³

et al. 2012

Pediatric Neurology

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Epilepsy, a neurologic disorder characterized by the predisposition to recurrent unprovoked seizures, is reported in more than 300 genetic syndromes. Muenke syndrome is an autosomal-dominant craniosynostosis syndrome characterized by unilateral or bilateral coronal craniosynostosis, hearing loss, intellectual disability, and relatively subtle limb findings such as carpal bone fusion and tarsal bone fusion. Muenke syndrome is caused by a single defining point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Epilepsy rarely occurs in individuals with Muenke syndrome, and little detail is reported on types of epilepsy, patient characteristics, and long-term outcomes. We present seven patients with Muenke syndrome and seizures. A review of 789 published cases of Muenke syndrome, with a focus on epilepsy and intracranial anomalies in Muenke syndrome, revealed epilepsy in six patients, with intracranial anomalies in five. The occurrence of epilepsy in Muenke syndrome within our cohort of 58 patients, of whom seven manifested epilepsy, and the intracranial anomalies and epilepsy reported in the literature, suggest that patients with Muenke syndrome may be at risk for epilepsy and intracranial anomalies. Furthermore, the impact of Muenke syndrome on the central nervous system may be greater than previously thought.

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Section: Discussionmentioning

confidence: 99%

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Agochukwu¹,

Solomon²,

Gropman³

et al. 2012

Pediatric Neurology

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“…The most striking ear anomalies were in an individual with a hypoplastic right auricle, an absent right external auditory meatus and bony atresia of the right external auditory canal [14]. This individual was misdiagnosed in infancy with…”

Section: Otologic Manifestationsmentioning

confidence: 99%

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Agochukwu

Solomon

Muenke

2014

International Journal of Pediatric Otorhinolaryngology

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“…Reported ear anomalies in Muenke syndrome include low-set and posteriorly rotated ears, venous dysplasia of the left petrous bone in an individual with tinnitus, and apical cartilage deformity (Kress et al, 2006; Roscioli et al, 2001). The most striking ear anomalies were found in an individual with a hypoplastic right auricle, an absent right external auditory meatus, and bony atresia of the right external auditory canal; this individual was misdiagnosed in infancy with Treacher Collins syndrome, due in part to the striking ear anomalies (Shah et al, 2006). …”

Section: Literature Reviewmentioning

confidence: 99%

Hearing Loss in Syndromic Craniosynostoses: Introduction and Consideration of Mechanisms

2014

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Purpose There are a number of craniosynostosis syndromes with hearing loss—including Muenke, Apert, Pfeiffer, Crouzon, Beare-Stevenson, Crouzon with acanthosis nigricans, and Jackson-Weiss syndromes—that result from mutations in the fibroblast growth factor receptor (FGFR) genes. Studies of FGFRs and their ligands, fibroblast growth factors (FGFs), have revealed clues to the precise contribution of aberrant FGFR signaling to inner ear morphogenesis and the hearing loss encountered in craniosynostoses. The purpose of this article is to review basic studies of FGFRs with emphasis on their function and expression in the inner ear and surrounding structures. Method A Medline search was performed to find basic science articles regarding FGFR, their ligands, and their expression and relevant mouse models. Additional items searched included clinical descriptions and studies of individuals with FGFR-related craniosynostosis syndromes. Results The FGF signaling pathway is essential for the morphogensis and proper function of the inner ear and auditory sensory epithelium. Conclusion The variable auditory phenotypes seen in individuals with Muenke syndrome may have a genetic basis, likely due to multiple interacting factors in the genetic environment or modifying factors. Further analysis and studies of mouse models of Muenke syndrome, in particular, may provide clues to the specific effects of the defining mutation in FGFR3 in the inner ear not only at birth but also into adulthood. In particular, investigations into these models may give insight into the variable expression and incomplete penetrance of this phenotype.

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Sudden infant death in a patient with FGFR3 P250R mutation

Cited by 11 publications

References 13 publications

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Hearing Loss in Syndromic Craniosynostoses: Introduction and Consideration of Mechanisms

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