A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options

N Sharma, D Kumari, I Panigrahi… - Clinical Genetics, 2023 - Wiley Online Library
Hearing impairment is one of the most widespread inheritable sensory disorder affecting at
least 1 in every 1000 born. About two‐third of hereditary hearing loss (HHL) disorders are …

[HTML][HTML] Genetic and phenotypic variability in Chinese patients with branchio-oto-renal or branchio-oto syndrome

H Feng, H Xu, B Chen, S Sun, R Zhai, B Zeng… - Frontiers in …, 2021 - frontiersin.org
Background: Branchio-oto-renal syndrome (BOR) and branchio-oto syndrome (BOS) are
rare autosomal dominant disorders defined by varying combinations of branchial, otic, and …

[HTML][HTML] Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population

A Morgan, S Lenarduzzi, B Spedicati, E Cattaruzzi… - Genes, 2020 - mdpi.com
Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common
sensory disorder, affecting~ 460 million people worldwide. More than 50% of the …

[HTML][HTML] Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

M Masuda, A Kanno, K Nara, H Mutai, N Morisada… - Scientific Reports, 2022 - nature.com
Some patients have an atypical form of branchio-oto-renal (BOR) syndrome, which does not
satisfy the diagnostic criteria, despite carrying a pathogenic variant (P variant) or a likely …

[HTML][HTML] The enigmatic genetic landscape of hereditary hearing loss: a multistep diagnostic strategy in the italian population

B Spedicati, A Santin, GG Nardone, E Rubinato… - Biomedicines, 2023 - mdpi.com
Hearing loss is the most frequent sensorineural disorder, affecting approximately 1: 1000
newborns. Hereditary forms (HHL) represent 50–60% of cases, highlighting the relevance of …

Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia

F Almalki - Annals of Human Genetics, 2024 - Wiley Online Library
Congenital hearing loss is one of the most common sensory disabilities worldwide. The
genetic causes of hearing loss account for 50% of hearing loss. Genetic causes of hearing …

[HTML][HTML] Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis

S Thongpradit, N Jinawath, A Javed, LT Jensen… - Frontiers in …, 2020 - frontiersin.org
Waardenburg syndrome (WS) is a prevalent hearing loss syndrome, concomitant with focal
skin pigmentation abnormalities, blue iris, and other abnormalities of neural crest-derived …

Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways

J Guan, J Li, G Chen, T Shi, L Lan, X Wu, C Zhao… - European Journal of …, 2021 - Elsevier
Hereditary hearing loss (HL) has high genetic and phenotypical heterogeneity including the
overlapping and variable phenotypic features. For sporadic HL without a family history, it is …

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

R Mkaouar, Z Riahi, J Marrakchi, N Mezzi… - Frontiers in …, 2024 - frontiersin.org
Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the
population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI …

[HTML][HTML] Pendred syndrome, or not pendred syndrome? That is the question

P Tesolin, S Fiorino, S Lenarduzzi, E Rubinato… - Genes, 2021 - mdpi.com
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL),
characterized by sensorineural HL, inner ear malformations, and goiter, with or without …