Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.

ABSTRACT:

Background

Point mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. However, the clinical consequences of the constitutively increased dosage of FOXF1 are unknown.

Methods

Copy-number variations and their parental origin were identified using a combination of array CGH, long-range PCR, DNA sequencing, and microsatellite analyses. Minisatellite sequences across different species were compared using a gready clustering algorithm and genome-wide analysis of the distribution of minisatellite sequences was performed using R statistical software.

Results

We report four unrelated families with 16q24.1 duplications encompassing entire FOXF1. In a 4-year-old boy with speech de

SUBMITTER: Dharmadhikari AV 

PROVIDER: S-EPMC4411736 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature