Nonpenetrance in FGFR3-associated coronal synostosis syndrome

Robin, Nathaniel H.; Scott, Jennifer A.; Cohen, Alan R.; Goldstein, Jeffrey A.

doi:10.1002/(sici)1096-8628(19981116)80:3<296::aid-ajmg25>3.0.co;2-6

Cited by 28 publications

(11 citation statements)

References 6 publications

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“…Robin et al 1998 reported a case in which the Pro250Arg mutation in the FGFR3 gene was associated with isolated coronal synostosis with no other clinical findings. Early in the same year, Graham et al 1998 described the effects of a Pro250Arg point mutation in two families with coronal craniosynostosis and brachydactyly with carpal/tarsal coalition.…”

Section: Discussionmentioning

confidence: 99%

Significant phenotypic variability of Muenke syndrome in identical twins

Escobar

Hiett

Marnocha

2009

American J of Med Genetics Pt A

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Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We report on a set of identical twins with a de novo C749G mutation in the FGFR3 gene codon 250 after a pregnancy complicated by prenatal exposure to Nortriptyline. These patients illustrate the variable expressivity of MS in association with an identical gene mutation.

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Section: Discussionmentioning

confidence: 99%

Significant phenotypic variability of Muenke syndrome in identical twins

Escobar

Hiett

Marnocha

2009

American J of Med Genetics Pt A

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“…The molecular confirmation of the diagnosis of MS is important, because it allows accurate genetic counseling, specially in patients with a mild phenotype such as macrocephaly, minor facial dysmorphisms, isolated craniosynostosis [Reardon et al, ; Graham et al, ; Gripp et al, ], or in cases of apparently asymptomatic mutation carriers which have been occasionally reported [Robin et al, ]. Furthermore, the confirmatory diagnosis allows adequate clinical follow‐up or surgical management given the frequent need for repeated cranial surgery in this entity (21%) attributable to an increased intracranial pressure following the fronto‐orbital reshaping and advancement for coronal craniosynostosis [Thomas et al, ].…”

Section: Introductionmentioning

confidence: 99%

Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis

Ángel

Estandía-Ortega

Alcántara-Ortigoza

et al. 2016

American J of Med Genetics Pt A

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Muenke syndrome (MS) is an autosomal dominant coronal craniosynostosis syndrome with variable extracranial anomalies. We studied 56 unrelated patients with non-syndromic uni- or bicoronal craniosynostosi to identify the frequency and clinical characteristics of MS in a cohort of Mexican childrens. The FGFR3 pathogenic variation p.Pro250Arg responsible for MS was characterized in all probands by PCR-restriction assay; available first-degree relatives (15 parents, 5 siblings) of the confirmed p.Pro250Arg carriers were also tested. All heterozygotes for p.Pro250Arg underwent clinical and audiologic assessment, as well as X-ray evaluations of hands and feet. Eight of 56 probands (14%) were found to carry the p.Pro250Arg variant and half of them were familial cases. Four p.Pro250Arg heterozygous familial members had been considered unaffected before the molecular testing. In one MS family, hydrocephalus without craniosynostosis, was documented as the only clinical manifestation in a previously undetected heterozygous male sibling. Hydrocephalus without craniosynostosis in a patient with the p.Pro250Arg variant suggests that some patients with MS might present only this manifestation; to our knowledge, hydrocephalus has not been described as isolated feature in MS, so we propose to consider this feature as an expansion of the MS phenotype rather than an unrelated finding. Our data also reinforce the notion that molecular testing of FGFR3 must be included in the diagnostic approach of coronal craniosynostosis. This will allow accurate genetic counseling and optimal management of MS, which might otherwise go undiagnosed because of mild manifestations and wide variability of expression. © 2016 Wiley Periodicals, Inc.

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“…Notably, some individuals with the p.Pro250Arg mutation may exhibit no signs of Muenke syndrome on physical or radiographic examination [4]. Muenke syndrome is unique among the syndromic craniosynostoses, because it is caused by a single defining mutation, whereas most syndromic craniosynostoses can be caused by multiple mutations in multiple different genes, the majority of which are members of the FGFR gene family.…”

Section: Introductionmentioning

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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Nonpenetrance in FGFR3-associated coronal synostosis syndrome

Cited by 28 publications

References 6 publications

Significant phenotypic variability of Muenke syndrome in identical twins

Significant phenotypic variability of Muenke syndrome in identical twins

Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

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