The aim of this study was to describe the clinical and genomic features of a family with special types of Duane’s retraction syndrome (DRS). The mother and son had obvious clinical features. The son displayed features of horizontal gaze palsy with progressive scoliosis (HGPPS). At presentation he had mild scoliosis and a short lingual frenum, feeding problems due to ankyloglossia and with persistent dysphonia after lingual frenectomy. Brain MRI did not show characteristics of HGPPS – bilateral sixth nerves were not observed within the cisternal pathway. The mother displayed characteristics of type 1 DRS with bilateral absence of sixth nerves on MRI. The father and daughter appeared unaffected initially. On careful examination, the daughter showed right globe retraction with narrowing of the palpebral fissure by 3mm on adduction. Gene mutations related to DRS and scoliosis were detected for the son and mother but not for the father and daughter. Novel heterozygous missense mutation site of the CHN1 gene were reported for the son and mother. The diagnosis of HGPPS was not supported for the son. Strabismus surgery was undertaken to improve appearance for the son, although minimal change was noted for ocular motility and angle of deviation.
Gene profiling for a family with Duane’s retraction syndrome
Reviewed by Fiona Rowe
Special clinical features with a novel mutation site of CHN1 in a Chinese family with Duane’s retraction syndrome.
CONTRIBUTOR
Fiona Rowe (Prof)
Institute of Population Health, University of Liverpool, UK.
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