A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia
نویسندگان
چکیده
منابع مشابه
Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non-syndromic hearing loss
Hearing loss is the most common sensory deficit in humans and gaining a better understanding of the underlying causes is necessary to improve counseling and rehabilitation. In the present study, a genetic analysis of a Chinese family with autosomal dominant non‑syndromic progressive hearing impairment was conducted and assessed. Whole‑exome sequencing in combination with a co‑segregation analys...
متن کاملSimultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia.
OBJECTIVE To describe the simultaneous occurence of an autosomal dominant inherited MSX1 mutation and an X-linked recessive inherited EDA mutation in one Chinese family with nonsyndromic oligodontia. METHODS Clinical data of characteristics of tooth agenesis were collected. MSX1 and EDA gene mutations were detected in a Chinese family of non-syndromic oligodontia. RESULTS Mild hypodontia in...
متن کاملInsight to FBXO31 novel mutation p.Cys283Asn causing Non-Syndromic autosomal recessive intellectual disability using computational methods
Computational analysis was carried out in the current study to analyze wild and mutant type (p.Cys283Asn, we identified in a previous study) of FBXO31 gene which has been identified to cause non-syndromic autosomal recessive intellectual disability. Using bioinformatics tools, structure prediction, conservation analysis, pocket identification and docking interactions were executed. Results obta...
متن کاملNon Syndromic Oligodontia: Case Report
Oligodontia is a rare genetic disorder which represents the congenital absence of more than six teeth in primary, permanent or both dentitions. It is usually a part of a syndrome and seldom occurs as an isolated entity. Genes responsible for non syndromic oligodontia are found to be MSX1 and PAX9 genes. In this case report a 13 year old boy is presented who had absence of all four second perman...
متن کاملNon-syndromic oligodontia: a case report.
BACKGROUND oligodontia is a condition with developmental absence of six or more permanent teeth excluding the third molars. It is a rare finding which has not been frequently documented in Nigerian children. OBJECTIVE to report a case of non syndromic oligodontia. METHODS The details of the clinical presentation, course and outcome of a 9-year-old child with oligodontia were reviewed. The c...
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ژورنال
عنوان ژورنال: Mutagenesis
سال: 2014
ISSN: 0267-8357,1464-3804
DOI: 10.1093/mutage/geu019