Novel ALDH3A2 Heterozygous Mutations in a Japanese Family with Sjögren–Larsson Syndrome
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چکیده
منابع مشابه
Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
The following information is missing from the Competing Interests section: " Xi Lin owns stocks in Otogenetics Corporation, which may be a source of potential conflict of interest for materials presented in this paper. This does not alter our adherence to PLOS ONE policies on sharing data and materials. " Reference 1. article distributed under the terms of the Creative Commons Attribution Licen...
متن کاملNovel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1
PURPOSE To identify the disease-causing mutation(s) in a Chinese family with autosomal recessive Usher syndrome type 1 (USH1). METHODS An ophthalmic examination and an audiometric test were conducted to ascertain the phenotype of two affected siblings. The microsatellite marker D11S937, which is close to the candidate gene MYO7A (USH1B locus), was selected for genotyping. From the DNA of the ...
متن کاملNovel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162) with USH1. Combining the ...
متن کاملIdentification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is...
متن کاملJervell and Lange-Nielsen Syndrome: Novel Compound Heterozygous Mutations in the KCNQ1 in a Korean Family
The Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterized by congenital deafness and cardiac phenotype (QT prolongation, ventricular arrhythmias, and sudden death). JLNS has been shown to occur due to homozygous mutation in KCNQ1 or KCNE1. There have been a few clinical case reports on JLNS in Korea; however, these were not confirmed by a genetic study. We i...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2006
ISSN: 0022-202X
DOI: 10.1038/sj.jid.5700453