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MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population
BackgroundMutations in MPZL2 , the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and...
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Deafness: from genetic architecture to gene therapy
Progress in deciphering the genetic architecture of human sensorineural hearing impairment (SNHI) or loss, and multidisciplinary studies of mouse...
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A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient
BackgroundMandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL; OMIM# 615381) is a rare autosomal dominant disorder,...
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Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes
Deafness and onychodystrophy syndromes are a group of phenotypically overlap** syndromes, which include DDOD syndrome (dominant...
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A joint international consensus statement for measuring quality of survival for patients with childhood cancer
The aim of treating childhood cancer remains to cure all. As survival rates improve, long-term health outcomes increasingly define quality of care....
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Audition: Hearing and Deafness
Among the senses, the mechanical ones, hearing, balance, touch, and proprioception, are most numerous but least understood. The status of hearing is...
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Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus
Childhood-onset systemic lupus erythematosus (cSLE) patients are unique, with hallmarks of Mendelian disorders (early-onset and severe disease) and...
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Functional and structural brain connectivity in congenital deafness
Several studies have been carried out to verify neural plasticity and the language process in deaf individuals. However, further investigations...
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Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
Although variant alleles of hundreds of genes are associated with sensorineural deafness in children, the genes and alleles involved remain largely...
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Nutrigenomics and Development: Childhood Obesity Susceptibility Genes and their Impact on Dietary Behavior and Nutrient Intake
Childhood obesity is considered a serious global public health issue. An increasing number of children are affected by obesity each year. Genetics...
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Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening
Genes associated with non-syndromic hearing loss (NSHL) are frequently included in panels for reproductive genetic carrier screening (RGCS), despite...
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Early deafness leads to re-sha** of functional connectivity beyond the auditory cortex
Early sensory deprivation, such as deafness, shapes brain development in multiple ways. Deprived auditory areas become engaged in the processing of...
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Inherited Risk for Childhood Leukemia
Childhood leukemia is the most common pediatric malignancy, diagnosed in nearly a third of pediatric cancer patients. Awareness and identification of...
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Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project
PurposeGenomic newborn screening raises practical and ethical issues. Evidence is required to build a framework to introduce this technology...
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Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma
Chemoradiation-induced hearing loss (CRIHL) is one of the most devasting side effects for nasopharyngeal carcinoma (NPC) patients, which seriously...
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Molecular genetic landscape of hereditary hearing loss in Pakistan
Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases may be due to genetic causes. Though significant...
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Auditory Perception in Cochlear Implantation
Cochlear implantation is a unique development in the field of human sensory system prosthetics. Electrical stimulation of the auditory nerve induces...
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DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance
PurposeTo describe a novel DNA2 variant contributing to defects in mtDNA maintenance and mtDNA depletion syndrome (MDS), and the clinical and...
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Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach
Cerebellar ataxias are a clinically heterogeneous group of neurological disorders. Besides the cerebellum, several forms of hereditary ataxias or...
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Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation
BackgroundThe mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited...
