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Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis
  1. S Schindler1,
  2. M Friedrich2,
  3. H Wagener3,
  4. B Lorenz1,
  5. M N Preising1
  1. 1Department of Paediatric Ophthalmology, Strabismology, and Ophthalmogenetics, Klinikum, University of Regensburg, 93042 Regensburg, Germany
  2. 2Department of Neurosurgery, Klinikum, University of Regensburg, 93042 Regensburg, Germany
  3. 3Department of Oral, Maxillofacial, and Plastic Surgery, Klinikum, University of Regensburg, 93042 Regensburg, Germany
  1. Correspondence to:
 Dr M Preising, Department of Paediatric Ophthalmology, Strabismology, and Ophthalmogenetics, Klinikum, University of Regensburg, 93042 Regensburg, Germany;
 markus.preising{at}klinik.uni-regensburg.de

https://doi.org/10.1136/jmg.39.10.764

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    Craniosynostoses are caused by premature fusion of one or more sutures of the infant’s skull with an incidence between 1:1000 and 1:10 000.1 Isolated and syndromic forms can be differentiated and are involved in over 150 genetic disorders.2 Syndromic forms tend to be inherited and include variable other malformations of the extremities, the backbone, and the face. Isolated forms of craniosynostoses are often non-hereditary with closure of a single cranial suture. In most cases of syndromic craniosynostoses, multiple sutures are closed and often hydrocephalus and intracranial hypertension occurs. Mutations in the genes for fibroblast growth factor receptors (FGFR) 1, 2 , and 3 have been associated with syndromic craniosynostoses in a variety of clinical phenotypes (table 1).

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    Table 1

    Genetic involvement in craniosynostoses

    Muenke syndrome has been reported as syndromic craniosynostosis with unilateral or bilateral coronal synostosis, and minimal non-facial features.3 Muenke syndrome has been diagnosed in patients ascribed to different clinical entities, such as Saethre-Chotzen, Pfeiffer, Crouzon, and Jackson-Weiss syndromes. In these cases, a specific single mutation P250R (749C→G) was found in the FGFR3 gene, first described by Bellus et al.4 Patients show variable abnormalities on radiographs of the hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions, and in some cases brachydactyly. Sensorineural hearing loss has been described in approximately 30% of cases and developmental delay has rarely been found.3,5–7

    The P250R mutation is located in the linker region between the second and third extracellular Ig-like domains of …

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