Patrick L. M. Huygen

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In the present study, genotype-phenotype correlations in eight Dutch DFNB8/10 families with compound heterozygous mutations in TMPRSS3 were addressed. We compared the phenotypes of the families by focusing on the mutation data. The compound heterozygous variants in the TMPRSS3 gene in the present families included one novel variant, p.Val199Met, and four(More)
A multicenter study was set up to elucidate the environmental and medical risk factors contributing to age-related hearing impairment (ARHI). Nine subsamples, collected by nine audiological centers across Europe, added up to a total of 4,083 subjects between 53 and 67 years. Audiometric data (pure-tone average [PTA]) were collected and the participants(More)
The cervico-ocular reflex (COR) was elicited in 12 normal and 30 labyrinthine-defective (LD) subjects, lacking a vestibulo-ocular reflex (VOR) in the usual laboratory tests, by sinusoidal horizontal rotation of the body at 30 degrees amplitude and frequencies of 0.1, 0.2 and 0.4 Hz. The head was fixed in space and the eyes were open in total darkness. The(More)
In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of intron 19 (c.1763+3A→G) segregating with the hearing loss in this family. One of the 6 transmembrane domains(More)
Three cases of congenital cytomegalovirus (CMV) infection with long-term audiovestibular sequelae are presented. Case 1 had no hearing in one ear and severe progressive hearing loss in the other ear; he showed vestibular symptoms at the age of 4.5 years. Case 2 had severe but stationary hearing loss in one ear and showed hearing impairment symptoms in the(More)
Seven missense mutations and one in-frame deletion mutation have been reported in the coagulation factor C homology (COCH) gene, causing the adult-onset, progressive sensorineural hearing loss and vestibular disorder at the DFNA9 locus. Prevalence of COCH mutations worldwide is unknown, as there is no systematic screening effort for late-onset hearing(More)
The gain in the optokinetic nystagmus reflex (OKR) of 27 labyrinthine-defective patients was compared with that of 27 subjects without any otoneurological abnormality, who were matched by age and sex. The patients without labyrinth function exhibited significantly higher OKR gains than the control subjects, especially so at higher age. The observed(More)
Vestibular functions were examined in 25 animals of the second generation of rats raised on a manganese-deficient diet; 9 animals appeared to be normal and 16 showed behavioural abnormalities, characterized by inability to swim and lack of tonic eye deviations. The nystagmic responses elicited by rotatory stimulation appeared to be normal. Histological(More)
OBJECTIVE To delineate the phenotype and genotype of an autosomal dominant low-frequency sensorineural nonsyndromic hearing impairment trait in relation to similar traits. STUDY DESIGN Family study, including retrospective case reviews. SETTING Tertiary referral center. PATIENTS Hearing impairment was documented in 11 family members in five(More)
A 65-year-old man was suffering from recurrent manic psychosis accompanied by weight loss. He also had a history of pleural effusion, aspecific migratory non-deforming seronegative polyarthritis, sensorineural hearing loss and semicircular canal paresis. Whipple's disease (WD) had been diagnosed at the age of 63 years. On admission to hospital) he had(More)