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Bnsu surveillance project: congenital cranial dysinnervation disorders.
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J Neurol Neurosurg Psychiatry 2013 Nov; 84(11):e2
Authors: Nick Gutowski
Royal Devon and Exeter Foundation Hospital & Exeter University.
Congenital cranial dysinnervation disorders: including Duane syndrome, MŲbius syndrome, congenital ptosis, congenital fibrosis of the external ocular muscles and Marcus Gunn jaw winking. Surveillance started for Duane syndrome (prevalence 1:10000) and expanded to include other less common congenital cranial dysinnervation disorders: MŲbius syndrome, congenital ptosis, congenital fibrosis of the external ocular muscles (CFEOM) and Marcus Gunn jaw winking. It is UK Clinical Research Network approved as a comprehensive study (number 4477). The name Congenital Cranial Dysinnervation Disorders (CCDDs) was chosen at the 110th European Neuromuscular Centre International Workshop in 2002, initiated by Nick Gutowski, reflecting the belief that there is a group of disorders resulting from developmental errors in ocular and facial muscle innervation that could have a genetic basis. An international consortium was formed to study these congenital neuromuscular diseases characterised by abnormal eye, eyelid, and/or facial movement. The aim is to determine those genes which contribute to CCDDs and to delineate their function. The study is straightforward for notifying clinicians: it involves keeping a note of patients, BNSU notification, passing on initial study information to the patient and providing clinical information to Exeter when patient consent is forthcoming. On receiving BNSU notification, study information is sent to the notifying clinician from Exeter to pass onto their patient. If the patient is willing to be contacted then consent will be requested from Exeter for study inclusion. When consent is obtained, relevant clinical details are requested from clinicians, including the general practitioner. Patients are asked whether other family members may be willing to help using, initial contact through the patient. Obtaining DNA samples is straightforward and painless; spit pots (assisted sample pots for young children) are provided from Exeter and processed in Exeter. DNA is processed in the Molecular Genetics Laboratory, Royal Devon and Exeter Foundation Hospital. The laboratory led by Professor Sian Ellard is a leading edge research laboratory and an NHS diagnostic laboratory, allowing known CCDD genes (currently CHN1, SALL4, HOXA1, KIF21A, TUBB3, ROBO3) to be provided as a diagnostic service to UK clinicians. Functional work is undertaken by Dr John Chilton, University of Exeter Medical School with collaborators in King's College London and Harvard. With BNSU help and other reporting sources by December 2012, 463 DNA samples were obtained from those with a CCDD and control family members (77% Duane's related samples, including 19 Duane families). Referring clinicians and their associations include Clinical Geneticists, Ophthalmologists and Orthoptists, with some direct approaches from patients. With collaborators we have been able to confirm the genetic cause of CCDDs in patients and families, aiding diagnostic certainty, but the function of the known genes still needs to be elucidated fully. Further genes await discovery. Understanding CCDDs provide a means to decipher how the myriad of intricate nervous system connections develop and are maintained. Despite many thousands of gene products that must be involved in brain wiring, there are few examples of the identification of genes responsible in humans. Studying eye muscle innervation is a relatively straightforward anatomical system in which to generate and test hypotheses about how nerves find their correct target during development. Support has kindly been provided by The Northcott Devon Medical Foundation, The Royal Society, The Wellcome Trust and the NIHR.
PMID: 24109047 [PubMed - as supplied by publisher]