scholarly journals Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Daniela Domanico ◽  
Serena Fragiotta ◽  
Paolo Trabucco ◽  
Marcella Nebbioso ◽  
Enzo Maria Vingolo
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Genetic Factors ◽  
Psychiatric Symptoms ◽  
Genetic Disorders ◽  
Usher Syndrome ◽  
High Prevalence ◽  
Psychiatric Manifestations ◽  
The Relationship

Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia. The relationship between Usher syndrome and mental disorders, most commonly a “schizophrenia-like” psychosis, is sometimes described in the literature. The etiology of psychiatric expression of Usher syndrome is still unclear. We reported a case of two natural siblings with congenital hypoacusis, retinitis pigmentosa, and psychiatric symptoms. Clinical features and genetic analysis were also reported. We analyzed possible causes to explain the high prevalence of psychiatric manifestations in Usher syndrome: genetic factors, brain damage, and “stress-related” hypothesis.

scholarly journals Brain tumors and indications for brain imaging in patients with psychiatric manifestations: a case report

2021 ◽  
Vol 28 (1) ◽  
Author(s):  
Seyed Alireza Haji Seyed Javadi ◽  
Bahare Rezaei
Keyword(s):  
Brain Tumor ◽  
Brain Tumors ◽  
Psychiatric Symptoms ◽  
Relevant Information ◽  
History Of ◽  
Response To Stress ◽  
The Right ◽  
Occipital Lobes ◽  
Psychiatric Manifestations ◽  
The Relationship

Abstract Background Studies on the relationship between psychiatric symptoms and brain tumors are ambiguous, as it is not clear whether these symptoms are due to the direct effect of the tumor or a secondary psychological response to stress, resulting from the diagnosis and treatment of the disease; therefore, it is difficult to analyze and retrieve relevant information. Case presentation We present the case of a 43-year-old male patient, who was admitted to a psychiatric emergency room with psychiatric symptoms, such as restlessness and extreme talkativeness, but normal neurological examinations. He showed no response to outpatient treatment and had no history of psychiatric disorders. The onset of symptoms was 2 months before his visit. On neuroimaging, a brain tumor was observed in the right temporal and occipital lobes. Accordingly, the patient was transferred to the neurosurgery ward. Conclusion Factors, such as increased internal pressure on the brain due to a brain tumor or the effect of tumor area, contribute to the occurrence of symptoms, such as restlessness and talkativeness. However, further studies are needed to confirm these findings.

scholarly journals Usher Syndrome: Genetics of a Human Ciliopathy

2021 ◽  
Vol 22 (13) ◽  
pp. 6723
Author(s):  
Carla Fuster-García ◽  
Belén García-Bohórquez ◽  
Ana Rodríguez-Muñoz ◽  
Elena Aller ◽  
Teresa Jaijo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Usher Syndrome ◽  
Organ Of Corti ◽  
Sensorineural Hearing ◽  
Protein Network ◽  
Phenotype Correlation

Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported to be causative of USH, and six more related to the disease. These genes encode proteins of a diverse nature, which interact and form a dynamic protein network called the “Usher interactome”. In the organ of Corti, the USH proteins are essential for the correct development and maintenance of the structure and cohesion of the stereocilia. In the retina, the USH protein network is principally located in the periciliary region of the photoreceptors, and plays an important role in the maintenance of the periciliary structure and the trafficking of molecules between the inner and the outer segments of photoreceptors. Even though some genes are clearly involved in the syndrome, others are controversial. Moreover, expression of some USH genes has been detected in other tissues, which could explain their involvement in additional mild comorbidities. In this paper, we review the genetics of Usher syndrome and the spectrum of mutations in USH genes. The aim is to identify possible mutation associations with the disease and provide an updated genotype–phenotype correlation.

Molecular Genetic Analysis of Two Functional Candidate Genes in the Autosomal Recessive Retinitis Pigmentosa, RP25, Locus

2005 ◽  
Vol 30 (12) ◽  
pp. 1081-1087 ◽  
Author(s):  
Mai M. Abd El-Aziz ◽  
Mohamed F. El-Ashry ◽  
Isabel Barragan ◽  
Irene Marcos ◽  
Salud Borrego ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Candidate Genes ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

scholarly journals Genetic Analysis of Indian Families with Autosomal Recessive Retinitis Pigmentosa by Homozygosity Screening

2009 ◽  
Vol 50 (9) ◽  
pp. 4065 ◽  
Author(s):  
Hardeep Pal Singh ◽  
Subhadra Jalali ◽  
Raja Narayanan ◽  
Chitra Kannabiran
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive

High Prevalence of Mutations in theEYSGene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

2012 ◽  
Vol 53 (2) ◽  
pp. 1033 ◽  
Author(s):  
Masaki Iwanami ◽  
Mio Oshikawa ◽  
Tomomi Nishida ◽  
Satoshi Nakadomari ◽  
Seishi Kato
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Japanese Patients ◽  
High Prevalence

Genetic Analysis of FAM46A in Spanish Families with Autosomal Recessive Retinitis Pigmentosa: Characterisation of Novel VNTRs

2007 ◽  
Vol 0 (0) ◽  
pp. 070907134358001-??? ◽  
Author(s):  
I. Barragán ◽  
S. Borrego ◽  
M. M. Abd El-Aziz ◽  
M. F. El-Ashry ◽  
L. Abu-Safieh ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive

Usher Syndrome in Four Hard-of-hearing Siblings

PEDIATRICS ◽  
1978 ◽  
Vol 62 (4) ◽  
pp. 578-583
Author(s):  
Sandra L. H. Davenport ◽  
Sinead O'Nuallain ◽  
Gilbert S. Omenn ◽  
Robert J. Wilkus
Keyword(s):  
Retinitis Pigmentosa ◽  
Hard Of Hearing ◽  
High Frequency ◽  
Autosomal Recessive ◽  
Usher Syndrome ◽  
Vestibular Function ◽  
Congenital Deafness ◽  
Visual Symptoms ◽  
Early Evidence

Retinitis pigmentosa (RP) and congenital deafness comprise the autosomal recessive Usher syndrome. The four affected siblings discussed here have audiometric curves characteristic of the 10% of patients with the syndrome who are not profoundly deaf. The oldest already has RP. Even though the younger three siblings have no visual symptoms, they do have auditory signs of the syndrome; they almost certainly will develop RP and become deaf-blind adults. Electroretinography indicates that the second oldest boy has early evidence of rod dysfunction. Special audiometric tests and electronystagmographic results support previous reports of a peripheral rather than central auditory lesion. The heterozygote parents show unilateral high-frequency hearing losses with normal retinal and vestibular function.

Study of Patterns of Inheritance in Affected Patients with Retinitis Pigmentosa in Iranian Populations

2020 ◽  
Author(s):  
Fahimeh Beigi ◽  
Mohammad Yahya Vahidi Mehrjardi ◽  
Masoud Reza Manaviat ◽  
Hamid Reza Ashrafzadeh ◽  
Nasrin Ghasemi
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Usher Syndrome ◽  
Field Measurements ◽  
Fundus Photography ◽  
Medical Sciences ◽  
Bardet Biedl Syndrome ◽  
Clinical Center ◽  
Preconception Genetic Counseling ◽  
Inherited Retinal Degeneration

Background and Aims: Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, photoreceptors loss of which in the retina causes visual loss. The purpose of the present study was to determine patterns of inheritance in RP patients in Yazd to help the health professional for designing suitable laboratory testing for the high risk families. Materials and Methods: Thirty affected RP patients referred to the Genetics Clinic of Research and Clinical Center for Infertility, in Yazd Medical Sciences University from 2010-2016. Full medical and family histories were taken from all family members. Ophthalmology examinations were performed in members of the families including electroretinogram, fundus photography, visual-field measurements and spectral-domain optical coherence tomography. Results: In this study, the most commonly pattern was inheritance of autosomal recessive. The patients were diagnosed as having Usher syndrome, Bardet-Biedl syndrome and Posterior Column Ataxia with Retinitis Pigmentosa. The study also reported a patient with Kreans-Sayer syndrome, a mitochondrial disease. Conclusions: We identified different inheritance patterns in RP patients. Identifying patterns of inheritance is important for pre-marriage and preconception genetic counseling.

Strategies for the Genetic Analysis of Autosomal Recessive Retinitis Pigmentosa in Spanish Families

1997 ◽  
pp. 263-275 ◽  
Author(s):  
Roser González-Duarte ◽  
Mónica Bayés ◽  
Amalia Martínez-Mir ◽  
Diana Valverde ◽  
Susana Balcells ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive
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