Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott–Rallison Syndrome in a Chinese Family
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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 Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to perform extended variant analysis. We identified ...
متن کاملNovel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family
Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His)) and c.709G > A (p.(Gly237Arg)) of the ALDH1A3 gene were present in the affected newborn. Both mutations were a...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2021
ISSN: 2296-2360
DOI: 10.3389/fped.2021.679646