Syndromes with Congenital Hearing Loss

1990 ◽  
pp. 67-93
Author(s):  
Peter D. Phelps ◽  
Glyn A. S. Lloyd
Keyword(s):  
Hearing Loss ◽  
Congenital Hearing Loss

scholarly journals A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nozomu Matsuda ◽  
Koushi Ootsuki ◽  
Shunsuke Kobayashi ◽  
Ayaka Nemoto ◽  
Hitoshi Kubo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Neuromuscular Disorders ◽  
Whole Body ◽  
Congenital Hearing Loss ◽  
Severe Phenotype ◽  
Demyelinating Neuropathy ◽  
Magnetic Resonance Neurography ◽  
Peripheral Myelin Protein 22 ◽  
Hypertrophic Neuropathy

Abstract Background Hereditary motor and sensory neuropathy, also referred to as Charcot–Marie–Tooth disease (CMT), is most often caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. This duplication causes CMT type 1A (CMT1A). CMT1A rarely occurs in combination with other hereditary neuromuscular disorders. However, such rare genetic coincidences produce a severe phenotype and have been reported in terms of “double trouble” overlapping syndrome. Waardenburg syndrome (WS) is the most common form of a hereditary syndromic deafness. It is primarily characterized by pigmentation anomalies and classified into four major phenotypes. A mutation in the SRY sex determining region Y-box 10 (SOX10) gene causes WS type 2 or 4 and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease. We describe a 11-year-old boy with extreme hypertrophic neuropathy because of a combination of CMT1A and WS type 2. This is the first published case on the co-occurrence of CMT1A and WS type 2. Case presentation The 11-year-old boy presented with motor developmental delay and a deterioration in unstable walking at 6 years of age. In addition, he had congenital hearing loss and heterochromia iridis. The neurological examination revealed weakness in the distal limbs with pes cavus. He was diagnosed with CMT1A by the fluorescence in situ hybridization method. His paternal pedigree had a history of CMT1A. However, no family member had congenital hearing loss. His clinical manifestation was apparently severe than those of his relatives with CMT1A. In addition, a whole-body magnetic resonance neurography revealed an extreme enlargement of his systemic cranial and spinal nerves. Subsequently, a genetic analysis revealed a heterozygous frameshift mutation c.876delT (p.F292Lfs*19) in the SOX10 gene. He was eventually diagnosed with WS type 2. Conclusions We described a patient with a genetically confirmed overlapping diagnoses of CMT1A and WS type 2. The double trouble with the genes created a significant impact on the peripheral nerves system. Severe phenotype in the proband can be attributed to the cumulative effect of mutations in both PMP22 and SOX10 genes, responsible for demyelinating neuropathy.

Evaluation of DNA damages in congenital hearing loss patients

2021 ◽  
Vol 822 ◽  
pp. 111744
Author(s):  
Özge Çağlar ◽  
Hayal Çobanoğlu ◽  
Atilla Uslu ◽  
Akın Çayır
Keyword(s):  
Hearing Loss ◽  
Congenital Hearing Loss ◽  
Dna Damages

scholarly journals Cochlear Nerve Canal Stenosis: Association With MYH14 and MYH9 Genes

2021 ◽  
pp. 014556132199683
Author(s):  
Wenqi Liang ◽  
Line Wang ◽  
Xinyu Song ◽  
Fenqi Gao ◽  
Pan Liu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Inner Ear ◽  
Internal Auditory Canal ◽  
Cochlear Nerve ◽  
Transverse Diameter ◽  
Congenital Hearing Loss ◽  
Canal Stenosis ◽  
Ear Anomalies ◽  
Generation Sequencing

The bony cochlear nerve canal transmits the cochlear nerve as it passes from the fundus of the internal auditory canal to the cochlea. Stenosis of the cochlear nerve canal, defined as a diameter less than 1.0 mm in transverse diameter, is associated with inner ear anomalies and severe to profound congenital hearing loss. We describe an 11-month-old infant with nonsyndromic congenital sensorineural hearing loss with cochlear nerve canal stenosis. Next-generation sequencing revealed heterozygous mutations in MYH9 and MYH14, encoding for the inner ear proteins myosin heavy chain IIA and IIC. The patient’s hearing was rehabilitated with bilateral cochlear implantation.

Mild matters: parental insights into the conundrums of managing mild congenital hearing loss

2021 ◽  
pp. 1-7
Author(s):  
Jing Jing Lin ◽  
Lynn Gillam ◽  
Libby Smith ◽  
Peter Carew ◽  
Alison King ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Congenital Hearing Loss

CRISPR/Cas9-mediated genome editing of splicing mutation causing congenital hearing loss

Gene ◽  
2019 ◽  
Vol 703 ◽  
pp. 83-90 ◽  
Author(s):  
Nari Ryu ◽  
Min-A Kim ◽  
Deok-Gyun Choi ◽  
Ye-Ri Kim ◽  
Jong Kyung Sonn ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genome Editing ◽  
Splicing Mutation ◽  
Congenital Hearing Loss

Congenital Viral Induced Hearing Loss

1995 ◽  
Vol 112 (5) ◽  
pp. P192-P192
Author(s):  
Melvin Strauss
Keyword(s):  
Hearing Loss ◽  
Experimental Studies ◽  
Congenital Hearing Loss ◽  
Educational Objectives ◽  
Congenital Cytomegalovirus

Educational objectives: To understand the nature and magnitude of congenital hearing loss with a specific understanding of viral causes of congenital hearing loss and to be knowledgeable of all aspects of congenital cytomegalovirus labyrinthitis including efforts at prevention and experimental studies.

Hearing Screening

2016 ◽  
Keyword(s):  
Hearing Loss ◽  
Social Development ◽  
Hearing Screening ◽  
Routine Screening ◽  
Childhood And Adolescence ◽  
Congenital Hearing Loss ◽  
Speech Impairment ◽  
Progressive Hearing Loss ◽  
Key Points ◽  
Children With Hearing Loss

Key Points The goal of screening is to identify children with hearing loss as early as possible to prevent language and speech impairment and its detriment to educational and social development. Routine screening for newborns is justified, given how common congenital hearing loss is. All children should be tested in the first month after birth, and any child identified as having hearing loss should be receiving intervention before 6 months of age. Routine screening should continue throughout childhood and adolescence to identify patients with acquired or progressive hearing loss.

Ear advantage in dichotic listening after correction for early congenital hearing loss

1998 ◽  
Vol 36 (3) ◽  
pp. 209-216 ◽  
Author(s):  
Joshua I. Breier ◽  
Merrill Hiscock ◽  
Robert A. Jahrsdoerfer ◽  
Lincoln Gray
Keyword(s):  
Hearing Loss ◽  
Dichotic Listening ◽  
Congenital Hearing Loss ◽  
Ear Advantage
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