Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis

Patricia B. S. Celestino-Soper; Edward Simpson; Danika Tumbleson Brink; Ty C. Lynnes; Stephen Dlouhy; Matteo Vatta; Jana Yeley; Cynthia Brown; Shaochun Bai

doi:10.1038/srep38776

journal article Open Access Dec 20, 2016

Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis

Patricia B. S. Celestino-Soper Edward Simpson Danika Tumbleson Brink Ty C. Lynnes Stephen Dlouhy Matteo Vatta

Jana Yeley Cynthia Brown Shaochun Bai

Scientific Reports Vol. 6 No. 1 · Springer Science and Business Media LLC

View at Publisher Save 10.1038/srep38776

Abstract

AbstractCystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of sticky and heavy mucus that can damage several organs. CF shows variable expressivity in affected individuals, but it typically causes respiratory and digestive complications as well as congenital bilateral absence of the vas deferens in males. Individuals with classic CF usually have variants that produce a defective protein from both alleles of the CFTR gene. Individuals with other variants may present with classic, non-classic, or milder forms of CF due to lower levels of functional CFTR protein. This article reports the genetic analysis of a female with features of asthma and mild or non-classic CF. CFTR sequencing demonstrated that she is a carrier for a maternally derived 5T/12TG variant. Deletion/duplication analysis by multiplex ligation-dependent probe amplification (MLPA) showed the presence of an intragenic paternally derived duplication involving exons 7–11 of the CFTR gene. This duplication is predicted to result in the production of a truncated CFTR protein lacking the terminal part of the nucleotide-binding domain 1 (NBD1) and thus is likely to be a non-functioning allele. The combination of this large intragenic duplication and 5T/12TG is the probable cause of the mild or non-classic CF features in this individual.

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Published: Dec 20, 2016
Vol/Issue: 6(1)
License: View

Authors

P

Patricia B. S. Celestino-Soper

E

Edward Simpson

D

Danika Tumbleson Brink

Department of Medical and Molecular Genetics, Indiana University, Indianapolis (M.V.).; Invitae, San Francisco, CA (M.V.).

Section of Endocrinology and Metabolism, The University of Chicago Pritzker School of Medicine, Chicago, IL, USA

Cite This Article

Patricia B. S. Celestino-Soper, Edward Simpson, Danika Tumbleson Brink, et al. (2016). Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis. Scientific Reports, 6(1). https://doi.org/10.1038/srep38776

Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis

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