Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

Article Genetics & Heredity

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Hedwig M. Velde et al.

Summary: Usher syndrome is a genetically heterogeneous disease with highly variable clinical manifestations. A recent study has found that variants in the ARSG gene are responsible for Usher syndrome type IV, expanding the phenotypic classification of the disease. This study describes the phenotype of three unrelated individuals with Usher syndrome type IV, identifying multiple novel pathogenic variants and confirming the loss of sulfatase activity in the mutant proteins through functional experiments.

HUMAN GENETICS (2022)

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Article Audiology & Speech-Language Pathology

Usher Syndrome

Alessandro Castiglione et al.

Summary: Usher syndrome is a common genetic condition that causes combined loss of hearing and vision. It can be divided into three main clinical types, each caused by mutations in different genes. This review provides an overview of the causative genes, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments for Usher syndrome.

AUDIOLOGY RESEARCH (2022)

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Article Biology

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

Saumil Sethna et al.

Summary: Usher syndrome type I is a rare genetic disorder characterized by deafness, vestibular areflexia, and progressive retinal degeneration. A specific gene variant is prevalent in Ashkenazi Jews and accounts for a majority of USH1 cases. Studies in mouse models have shown similar visual deficits, suggesting potential therapeutic targets for preserving vision in USH1F patients.

ELIFE (2021)

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Review Biochemistry & Molecular Biology

Usher Syndrome: Genetics of a Human Ciliopathy

Carla Fuster-Garcia et al.

Summary: Usher syndrome is a genetic disorder characterized by hearing loss, retinitis pigmentosa, and sometimes vestibular dysfunction. It is caused by mutations in multiple genes which interact to form a protein network, and these mutations can affect various tissues leading to diverse symptoms associated with the disease.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Ophthalmology