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While many genetic diseases are caused by defects in an enzyme, mutations in regulatory proteins can also have serious consequences.  For this week, search GeneReviews for a genetic disorder that is caused by a mutation in a regulatory gene.  This gene may affect any process or system, but its main function may not be enzymatic.  After conducting your research, answer the following questions:
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Please choose an original topic for your post.  Feel free to claim a topic at the beginning of the week.  Please make your first post by Wednesday evening and be sure to respond to all posts in your thread.  Respond to at least one other student by Sunday evening.  Please keep HIPAA guidelines in mind if you want to share work experiences.NLM Citation: Ong T, Marshall SG, Karczeski BA, et al. Cystic Fibrosis
and Congenital Absence of the Vas Deferens. 2001 Mar 26 [Updated
2017 Feb 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors.
GeneReviews® [Internet]. Seattle (WA): University of Washington,
Seattle; 1993-2020.
Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/

Cystic Fibrosis and Congenital Absence of the Vas
Deferens
Thida Ong, MD,1 Susan G Marshall, MD,1 Barbara A Karczeski, MS, CGC,2 Darci L
Sternen, MS, LGC,3 Edith Cheng, MS, MD,4 and Garry R Cutting, MD5

Created: March 26, 2001; Updated: February 2, 2017.

Summary

Clinical characteristics
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas,
intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include progressive obstructive lung
disease with bronchiectasis, frequent hospitalizations for pulmonary disease, pancreatic insufficiency and
malnutrition, recurrent sinusitis and bronchitis, and male infertility. Pulmonary disease is the major cause of
morbidity and mortality in CF. Meconium ileus occurs at birth in 15%-20% of newborns with CF. More than
95% of males with CF are infertile.

Congenital absence of the vas deferens (CAVD) is generally identified during evaluation of infertility or as an
incidental finding at the time of a surgical procedure. Hypoplasia or aplasia of the vas deferens and seminal
vesicles may occur either bilaterally or unilaterally. Testicular development and function and spermatogenesis
are usually normal.

Diagnosis/testing
The diagnosis of CF is established in a proband with one or more characteristic phenotypic features and
evidence of an abnormality in cystic fibrosis transmembrane conductance regulator (CFTR) function (e.g., 2
elevated sweat chloride values, biallelic CFTR pathogenic variants, or transepithelial nasal potential difference
measurement characteristic of CF). The diagnosis of CF is established in an infant with elevated trypsinogen on
newborn screening and identification of biallelic CFTR pathogenic variants or an elevated sweat chloride.

The diagnosis of CAVD is established in a male with azoospermia and absence of the vas deferens on palpation
or identification of biallelic CAVD-causing CFTR pathogenic variants.

Author Affiliations: 1 Division of Pulmonary and Sleep Medicine, Seattle Children’s Hospital, University of Washington
School of Medicine, Seattle, Washington. 2 DNA Diagnostic Laboratory, Johns Hopkins University School of Medicine,
Baltimore, Maryland. 3 Department of Laboratories and Pediatric Laboratory Utilization Guidance Services, Seattle
Children’s Hospital, Seattle, Washington. 4 Department of Obstetrics and Gynecology, University of Washington School
of Medicine, Seattle, Washington. 5 Institute of Genetic Medicine, Departments of Pediatrics and Medicine, Johns
Hopkins University School of Medicine, Baltimore, Maryland.

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