A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.

Objective: To study the genotype and phenotype of a Dutch family with autosomal dominantly inherited hearing loss.

Study Design: Genotype-phenotype correlation study. Genetic analysis consisted of linkage analysis, variable number of tandem repeats analysis, and Sanger sequencing.

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

Background: The 6p25 deletion syndrome is one of the many syndromes with both hearing impairment as well as vision impairment. However, the audiometric characteristics and radiological findings of patients with 6p25 deletions are only scarcely described in literature. This study focused on characterizing the audiometric and radiological features of a Belgian family with a chromosome 6p25 deletion.

Nine-year-old girl with a respiratory epithelial cyst of the orbit.

Objective: Here we describe the clinical and histopathological characteristics of a nine-year-old girl with an intraorbital mass of the left orbit, and review the relevant literature.

Results: Imaging data and surgical biopsy revealed an intraconal cystic lesion in the medial-inferior quadrant of the left orbit. The cyst was lined with ciliated pseudostratified epithelium, consistent with a respiratory epithelial cyst of the orbit.

Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis.

Since deafness is the most common sensorineural disorder in humans, better understanding of the underlying causes is necessary to improve counseling and rehabilitation. A Dutch family with autosomal dominantly inherited sensorineural hearing loss was clinically and genetically assessed. The MYO6 gene was selected to be sequenced because of similarities with other, previously described DFNA22 phenotypes and a pathogenic c.

Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.

Objective: Investigation of the audiometric characteristics of a large Dutch DFNX4 family with a p.Glu72X mutation in the SMPX gene.

Patients And Methods: Sixty family members participated in this study and examination consisted of medical history, otoscopy, pure tone and speech audiometry.