ANDROGEN INSENSITIVITY SYNDROME DUE TO NON-CODING VARIATION IN THE ANDROGEN RECEPTOR GENE: REVIEW OF THE LITERATURE AND CASE REPORT OF A PATIENT WITH MOSAIC C.-547C>T VARIANT
Noveski P, Plaseski T, Dimitrovska M, Plaseska-Karanfilska D
*Corresponding Author: Dijana Plaseska-Karanfilska, MD, PhD, Research Centre for Genetic Engineering and Biotechnology ‘Georgi D. Efremov’, Macedonian Academy of Sciences and Arts, Krste Misirkov 2, 1000 Skopje, Republic of Macedonia, Tel. +389 2 3235 410, E-mail: dijana@manu.edu.mk
page: 51
|
|
REFERENCES
1. Kyriakou A, Lucas-Herald AK, McGowan R, Tobias
ES, and Ahmed SF. Disorders of sex development:
advances in genetic diagnosis and challenges in management.
Advances in Genomics and Genetics. 2015;
5: 165-177.
2. Eggers S, Sadedin S, van den Bergen JA, Robevska
G, Ohnesorg T, Hewitt J, et al. Disorders of sex development:
insights from targeted gene sequencing
of a large international patient cohort. Genome Biol.
2016; 17(1): 243.
3. Batista RL, Costa EMF, Rodrigues AS, Gomes NL,
Faria JA, Jr., Nishi MY, et al. Androgen insensitivity
syndrome: a review. Arch Endocrinol Metab. 2018;
62(2): 227-235.
4. Boehmer AL, Brinkmann O, Brüggenwirth H, van
Assendelft C, Otten BJ, Verleun-Mooijman MC, et al.
Genotype versus phenotype in families with androgen
insensitivity syndrome. J Clin Endocrinol Metab.
2001; 86(9): 4151-60.
5. Gottlieb B, Beitel LK, Nadarajah A, Paliouras M, and
Trifiro M. The androgen receptor gene mutations database:
2012 update. Hum Mutat. 2012; 33(5): 887-94.
6. Camats N, Flück CE, and Audí L. Oligogenic Origin
of Differences of Sex Development in Humans. Int J
Mol Sci. 2020; 21(5).
7. Boehmer AL, Brinkmann AO, Nijman RM, Verleun-
Mooijman MC, de Ruiter P, Niermeijer MF, et al.
Phenotypic variation in a family with partial androgen
insensitivity syndrome explained by differences in
5alpha dihydrotestosterone availability. J Clin Endocrinol
Metab. 2001; 86(3): 1240-6.
8. Köhler B, Lumbroso S, Leger J, Audran F, Grau ES,
Kurtz F, et al. Androgen insensitivity syndrome: somatic
mosaicism of the androgen receptor in seven
families and consequences for sex assignment and
genetic counseling. J Clin Endocrinol Metab. 2005;
90(1): 106-11.
9. Hornig NC, de Beaufort C, Denzer F, Cools M,
Wabitsch M, Ukat M, et al. A Recurrent Germline
Mutation in the 5’UTR of the Androgen Receptor
Causes Complete Androgen Insensitivity by Activating
Aberrant uORF Translation. Plos one. 2016;
11(4): e0154158.
10. Noveski P, Terzic M, Vujovic M, Kuzmanovska M,
Sukarova Stefanovska E, and Plaseska-Karanfilska D.
Multilevel regression modeling for aneuploidy classification
and physical separation of maternal cell contamination
facilitates the QF-PCR based analysis of common
fetal aneuploidies. Plos one. 2019; 14(8): e0221227.
11. Plaseski T, Noveski P, Trivodalieva S, Efremov GD,
and Plaseska-Karanfilska D. Quantitative fluorescent-
PCR detection of sex chromosome aneuploidies and
AZF deletions/duplications. Genetic testing. 2008;
12(4): 595-605.
12. Noveski P, Madjunkova S, Sukarova Stefanovska
E, Matevska Geshkovska N, Kuzmanovska M, Dimovski
A, et al. Loss of Y chromosome in peripheral
blood of colorectal and prostate cancer patients. Plos
one. 2016; 11(1): e0146264.
13. Zhang X, Wakeling M, Ware J, and Whiffin N. Annotating
high-impact 5’untranslated region variants
with the UTRannotator. Bioinformatics. 2021; 37(8):
1171-1173.
14. McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR,
Thormann A, et al. The Ensembl Variant Effect Predictor.
Genome Biol. 2016; 17(1): 122.
15. Baetens D, Mendonça BB, Verdin H, Cools M, and
De Baere E. Non-coding variation in disorders of sex
development. Clin Genet. 2017; 91(2): 163-172.
16. Soukarieh O, Meguerditchian C, Proust C, Aïssi D,
Eyries M, Goyenvalle A, et al. Common and Rare
5’UTR Variants Altering Upstream Open Reading
Frames in Cardiovascular Genomics. Front Cardiovasc
Med. 2022; 9: 841032.
17. Whiffin N, Karczewski KJ, Zhang X, Chothani S,
Smith MJ, Evans DG, et al. Characterising the lossof-
function impact of 5’ untranslated region variants in
15,708 individuals. Nat Commun. 2020; 11(1): 2523.
18. Calvo SE, Pagliarini DJ, and Mootha VK. Upstream
open reading frames cause widespread reduction of
protein expression and are polymorphic among humans.
Proc Natl Acad Sci U S A. 2009; 106(18):
7507-12.
19. Lee DSM, Park J, Kromer A, Baras A, Rader DJ,
Ritchie MD, et al. Disrupting upstream translation
in mRNAs is associated with human disease. Nat
Commun. 2021; 12(1): 1515.
20. Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai
M, Wang Q, et al. A genome-wide mutational
constraint map quantified from variation in 76,156
human genomes. bioRxiv. 2022: 2022.03.20.485034.
21. Holterhus PM, Brüggenwirth HT, Hiort O, Kleinkauf-
Houcken A, Kruse K, Sinnecker GH, et al. Mosaicism
due to a somatic mutation of the androgen receptor gene
determines phenotype in androgen insensitivity syndrome.
J Clin Endocrinol Metab. 1997; 82(11): 3584-9.
22. Gottlieb B and Trifiro MA. Androgen Insensitivity
Syndrome [Updated 2017 May 11]. In: Adam MP,
Mirzaa GM, Pagon RA, et al., editors. GeneReviews®
[Internet]. Seattle (WA): University of Washington,
Seattle; 1993-2023. Available from: https://www.
ncbi.nlm.nih.gov/books/NBK1429/. 1993.
23. Batista RL, Yamaguchi K, Rodrigues ADS, Nishi
MY, Goodier JL, Carvalho LR, et al. Mobile DNA
in Endocrinology: LINE-1 Retrotransposon Causing
Partial Androgen Insensitivity Syndrome. J Clin
Endocrinol Metab. 2019; 104(12): 6385-6390.
24. Ono H, Saitsu H, Horikawa R, Nakashima S, Ohkubo
Y, Yanagi K, et al. Partial androgen insensitivity syndrome
caused by a deep intronic mutation creating
an alternative splice acceptor site of the AR gene. Sci
Rep. 2018; 8(1): 2287.
25. Kalinchenko NY, Petrov VM, Panova AV, and Tiulpakov
AN. [A deep intronic mutation in AR gene causing
androgen insensitivity syndrome: difficulties of diagnostics].
Probl Endokrinol (Mosk). 2021; 67(5): 48-52.
26. Brüggenwirth HT, Boehmer AL, Ramnarain S,
Verleun-Mooijman MC, Satijn DP, Trapman J, et al.
Molecular analysis of the androgen-receptor gene
in a family with receptor-positive partial androgen
insensitivity: an unusual type of intronic mutation.
Am J Hum Genet. 1997; 61(5): 1067-77.
27. Känsäkoski J, Jääskeläinen J, Jääskeläinen T, Tommiska
J, Saarinen L, Lehtonen R, et al. Complete
androgen insensitivity syndrome caused by a deep
intronic pseudoexon-activating mutation in the androgen
receptor gene. Sci Rep. 2016; 6: 32819.
28. Miller DE, Lee L, Galey M, Kandhaya-Pillai R, Tischkowitz
M, Amalnath D, et al. Targeted long-read sequencing
identifies missing pathogenic variants in
unsolved Werner syndrome cases. J Med Genet. 2022;
59(11): 1087-94.
29. Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema
K, Munson KM, et al. Targeted long-read sequencing
identifies missing disease-causing variation. Am J
Hum Genet. 2021; 108(8): 1436-1449
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
