X-Linked Candidate Genes for a Ciliopathy-Like Disorder

Molecular Syndromology

Holly E. Babcock¹  Thierry Vilboux¹  Benjamin D. Solomon¹  Ashleigh R. Pavey¹  Margot Ahronovich¹ 

[1] aDepartment of Pediatrics, Walter Reed National Military Medical Center, Washington, D.C., USA

关键词: Chromosomal microarray;    Ciliopathy;    Deletion;    Multiple congenital anomalies;    X-linked inheritance;   

DOI  :  10.1159/000444666

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

The ability to interrogate the genome via chromosomal microarray and sequencing-based technologies has accelerated the ability to rapidly and accurately define etiologies as well as new candidate genes related to genetic conditions. We describe a male patient with a lethal presentation of a multiple congenital anomaly syndrome that appeared consistent with a ciliopathy phenotype. The patient was found to have a novel maternally inherited 1.9-Mb X chromosome deletion including 4 known genes. Presently, the biological functions of these genes are not well delineated. However, at least one of these genes may be a promising candidate gene for this pattern of anomalies based on the function of related genes and information from publicly available copy number variant databases of control and affected individuals. These genes would bear further scrutiny in larger cohorts of patients with similar phenotypes.

【 授权许可】

Unknown