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Article
Open AccessDispersed DNA variants underlie hearing loss in South Florida’s minority population
We analyzed the genetic causes of sensorineural hearing loss in racial and ethnic minorities of South Florida by reviewing demographic, phenotypic, and genetic data on 136 patients presenting to the Hereditary...
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Article
Open AccessNovel GPR156 variants confirm its role in moderate sensorineural hearing loss
Hereditary hearing loss (HL) is a genetically heterogeneous disorder affecting people worldwide. The implementation of advanced sequencing technologies has significantly contributed to the identification of no...
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Article
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome seque...
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Article
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant...
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Article
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes...
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Article
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous.The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic coun...
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Article
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) commonly cause chronic kidney disease in children. While most CAKUT cases are sporadic, observed familial clustering suggests that the pathogenesis ...
