Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3

Gripp, Karen W.; McDonald‐McGinn, Donna M.; Gaudenz, Karin; Whitáker, Linton A.; Bartlett, Scott P.; Glat, Paul M.; Cassileth, Lisa B.; Mayro, Rosario; Zackai, Elaine H.; Muenke, Maximilian

doi:10.1016/s0022-3476(98)70366-x

Cited by 88 publications

(52 citation statements)

References 12 publications

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“…Of note, a mutation has been identified in FGFR3, which is associated with isolated unilateral coronal synostosis, the clinical finding in both these AGS individuals [Gripp et al, 1998]. Sequence analysis was also performed for this mutation and was negative.…”

Section: Discussionmentioning

confidence: 99%

Craniosynostosis in Alagille syndrome

et al. 2002

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Alagille syndrome is a multisystem developmental disorder with primary involvement of the liver, heart, skeleton, eyes and facial structures, and demonstrates highly variable expressivity with respect to all of the involved systems. Alagille syndrome is caused by mutations in the Jagged1 gene. Jagged1 is a ligand in the Notch signaling pathway that has been shown to regulate early cell fate determination. Mutations in Jagged1 have been identified in approximately 80% of patients with Alagille syndrome. We have recently identified two patients with mutation proven Alagille syndrome who also had unilateral coronal craniosynostosis. Both individuals were screened for mutations in fibroblast growth factor receptor 1, 2, 3 and TWIST genes, all associated with various types of craniosynostosis and no mutations were identified. The finding of a conserved form of craniosynostosis in two unrelated patients with Alagille syndrome and mutations in Jagged1 may indicate that Jagged1 plays a role in cranial suture formation. © 2002 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Craniosynostosis in Alagille syndrome

et al. 2002

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“…They studied 26 patients with nonsyndromal coronal craniosynostosis and found 8 to have this mutation; 6 were new mutations and 2 were inherited. Gripp et al [1998] examined 37 cases of apparently sporadic unicoronal synostosis and found this mutation in 4, making the point that all patients with unicoronal synostosis should be tested, if possible, before genetic advice is given. This is not always easily attained in many centers.…”

Section: Discussionmentioning

confidence: 99%

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

et al. 2001

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A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et al. [1997: Am J Hum Genet 60:555-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic nature of this form of coronal craniosynostosis, including brachydactyly with carpal and/or tarsal coalitions, with other anomalies at lower frequency. We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation. We also report a single case with an identical phenotype without the mutation.

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“…44,45 Genetics and environmental exposures (uterine constraint) have been implicated as causes for isolated craniosynostosis. [46][47][48][49] For example, researchers are investigating mutations in fibroblast growth factor receptors 1-3, and TWIST, which have been found in some craniofacial syndromes and even in some samples of nonsyndromic, single-suture synostoses. [47][48][49] Most cases of single-suture synostosis require a single surgery (cranioplasty) to release the fused suture and reshape the deformed calvaria.…”

Section: Single-suture Synostosesmentioning

confidence: 99%

“…[46][47][48][49] For example, researchers are investigating mutations in fibroblast growth factor receptors 1-3, and TWIST, which have been found in some craniofacial syndromes and even in some samples of nonsyndromic, single-suture synostoses. [47][48][49] Most cases of single-suture synostosis require a single surgery (cranioplasty) to release the fused suture and reshape the deformed calvaria. 50 This surgery is preferentially performed within the first year of life in order to capitalize on the malleability of the infant's skull-as well as the rapid growth of the infant's brain-and to minimize secondary facial deformation.…”

Section: Single-suture Synostosesmentioning

confidence: 99%

Neurodevelopmental Implications of "Deformational" Plagiocephaly

Collett

Breiger

King

et al. 2005

Journal of Developmental & Behavioral Pediatrics

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Over the past decade there has been a dramatic increase in referrals to specialty clinics, craniofacial centers, plastic surgeons, and neurosurgeons for assessment and treatment of deformational plagiocephaly (DP). Though considered a medically benign condition, preliminary reports suggest that DP may be associated with developmental problems. However, mechanisms to account for this association have not been hypothesized or empirically tested. Although treatment justifications often center on prevention of atypical appearance, little is known about the cosmetic outcomes of treated and untreated children. In this review we hypothesize different etiological pathways linking DP with neurodevelopment (e.g., environmental positioning limitations with and without underlying CNS pathology). We outline directions for research on incidence and prevalence, developmental outcomes, sex differences, determinants of treatment participation, and craniofacial appearance. Despite the paucity of existing research, preliminary findings suggest that children with this condition should be screened and monitored for developmental delays or deficits, as we await more conclusive information from future studies. J Dev Behav Pediatr 26:379-389, 2005. Index terms: plagiocephaly, neurodevelopment, ''back to sleep''.

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Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3

Cited by 88 publications

References 12 publications

Craniosynostosis in Alagille syndrome

Craniosynostosis in Alagille syndrome

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

Neurodevelopmental Implications of "Deformational" Plagiocephaly

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