An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

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• 作者：Polona Le Quesne Stabej ; Chela James ; Louise Ocaka…
• 关键词：Next generation sequencing ; Autosomal recessive non ; syndromic hearing loss ; PDZD7 ; Osteogenesis imperfecta ; Mosaicism ; COL1A1 C ; propeptide cleavage site
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：12
• 期：1
• 全文大小：1490KB
• 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Human Genetics;
• 出版者：BioMed Central
• ISSN：1750-1172
• 卷排序：12

文摘

BackgroundWe describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysis on the offspring with either the skeletal or developmental delay phenotypes, and linkage analysis and whole exome sequencing (WES) on all four children, parents and maternal aunt.