Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and...

Full description

Saved in:
Bibliographic Details
Published in:Molecular syndromology Vol. 9; no. 5; p. 235
Main Authors: Kadiyska, Tanya, Tourtourikov, Ivan, Petrov, Asen, Chavoushian, Ani, Antalavicheva, Miglena, König, Eva-Maria, Klopocki, Eva, Vessela, Nikolova, Stanislavov, Romil
Format: Journal Article
Language:English
Published: Switzerland 01.01.2019
Subjects:
Asthenoteratozoospermia
Array CGH
Familial adenomatous polyposis
TSSK1B
ISSN:1661-8769
Online Access:Get more information
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and the subsequent array CGH identified an approximately 8-Mb-sized deletion in the 5q22.2q23.1 locus. Further analysis of the deleted region and the genes within suggested a possible role for the (testis-specific serine/threonine kinase 1) gene in the patient's reproductive capacity. Semen analysis confirmed that the patient's reproductive capability was impaired, and that he suffered from asthenoteratozoospermia. Analysis of the azoospermia factor region on the Y chromosome revealed no microdeletions. Further sequencing tests could not find an alternative explanation for the patient's infertility. This case demonstrates a possible role of in male reproduction.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1661-8769
DOI:10.1159/000492516