Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence

Safendra Siregar; Bambang Sasongko Noegroho; Irfan Firmansyah

doi:doi:10.11648/j.ijcu.20190301.15

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Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence

Safendra Siregar, Bambang Sasongko Noegroho, Irfan Firmansyah

Published in International Journal of Clinical Urology (Volume 3, Issue 1)

Received: 18 December 2018 Accepted: 22 August 2019 Published: 9 September 2019

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Abstract

Introduction: Hypospadias is a condition in which the urethral orifice is located on the ventral side of the penis proximal to the tip of the glans, from the balanopreputial sulcus to the perineal area. The gene thought to play a role in the occurrence of hypospadias was the mastermind-like domain gene containing 1 (MAMLD1) or previously known as the CXorf6 gene (chromosome X opens reading frame 6). Aims: This study aims to look at the relationship between the gene mutation of MAMLD1 with hypospadias incidence. Methods: This study is observational analysis with case-control as design studies. The subjects are male patients who diagnose as having hypospadias based on examinations conduct at the Department of Urology Dr. Hasan Sadikin Bandung. The study will be conduct in May 2018 - April 2019. DNA is taken from the skin of penile prepuce in both the case group and the control group. DNA extraction using the Homebrew method at the Eykman Laboratory, Padjadjaran University, Bandung. Mutation analysis will carried out by exon sequencing of MAMLD1 coding using the direct sequencing standard method at the Eykman Genetic Laboratory, Padjadjaran University, Bandung. The data that has been obtained will be analyzed using the chi-square correlation test method, if the chi square requirements are not met, then use the fisher test exact. Results: Average age of patients operated was between 4 – 18 years old and the most frequent type of hypospadias was distal Type. No MAMLD1 polymorphisms were found in experimental group and control groups. Result of MAMLD1 gene sequencing showed there were no mutation in any sample. In other words, from all hypospadias and control patient who were sequenced, the mutation rate was 0%. Conclusion: From this study we concluded that MAMLD1 gene mutation were not different between hypospadias and control groups. We didn’t found any MAMLD1 mutation ether in hyposphadia groups or control groups. There was no correlation between MAMLD1 gene mutation with hypospadias incidence.

Published in	International Journal of Clinical Urology (Volume 3, Issue 1)
DOI	10.11648/j.ijcu.20190301.15
Page(s)	18-21
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Hypospadias, MAMLD1, Mutation

References

[1]	Beleza-Meireles A, Omrani D, Kockum I, Frisen L, Lagerstedt K, Nordenskjöld A. 2006. Polymorphisms of estrogen receptor β gene are associated with hypospadias. Journal of endocrinological investigation; 29 (1): 5-10.
[2]	Choudhry S, Baskin LS, Lammer EJ, Witte JS, Dasgupta S, Ma C, et al. 2015. Genetic polymorphisms in ESR1 and ESR2 genes, and risk of hypospadias in a multiethnic study population. The Journal of urology; 193 (5): 1625-31.
[3]	Kalfa N, Cassorla F, Audran F, Abdennabi IO, Philibert P, Beroud C, et al. 2011. Polymorphisms of MAMLD1 gene in hypospadias. Journal of pediatric urology; 7 (6): 585-91.
[4]	Samtani R, Bajpai M, Vashisht K, Ghosh P, Saraswathy K. 2011. Hypospadias risk and polymorphism in SRD5A2 and CYP17 genes: case-control study among Indian children. The Journal of urology; 185 (6): 2334-9.
[5]	Sharma N, Bajpai M, Panda S, Singh A, Pandey R, Ali A. Family based genetic study in proximal penile hypospadias with undescended testis.
[6]	Krisna DM, Maulana A. 2017. Hipospadia: Bagaimana Karakteristiknya di Indonesia. Berkala Ilmiah Kedokteran Duta Wacana; 02 (02).
[7]	Park JM. 2016. Embryology of the Genitourinary Tract. Dalam: Wein AJ, Kavoussi LR, Partin AW, Peters CA (penyunting). “Campbell-Wall Urology”. Edisi 11. Bab 122. hlm. 2823-48.e4. Philadelphia: Elsevier, Inc.
[8]	Snodgrass WT, Bush NC. 2016. Hypospadias. Dalam: Wein AJ, Kavoussi LR, Partin AW, Peters CA (penyunting). “Campbell-Wall Urology”. Edisi 11. Bab 147. hlm. 3399-429.e2. Philadelphia: Elsevier, Inc.
[9]	Ogata T, Laporte J, Fukami M. 2009. MAMLD1 (CXorf6): a new gene involved in hypospadias. National Center for Biotechnology Information.
[10]	Ogata T, Fukami M, Wada Y. 2008. MAMLD1 (CXorf6) is a New Gene for Hypospadias. National Center for Biotechnology Information.
[11]	Kalfa N, Cassorla F, Audran F, Abdennabi IO, Philibert P, Béroud C, et al. 2011. Polymorphisms of MAMLD1 gene in hypospadias. National Center for Biotechnology Information.
[12]	Baskin LS, Ebbers MB. 2006. Hypospadias: anatomy, etiology, and technique. Journal of pediatric surgery; 41 (3): 463-72.
[13]	Yiee JH, Baskin LS. 2010. Penile embryology and anatomy. The Scientific World Journal; 10: 1174-9.
[14]	Tanagho E, McAninch J. 2007. Smith's general urology: McGraw-Hill Prof Med/Tech.
[15]	Gearhart JG, Rink RC, Mouriquand PD. 2009. Pediatric urology: Elsevier Health Sciences.
[16]	Shih EM, Graham JM. 2014. Review of genetic and environmental factors leading to hypospadias. European journal of medical genetics; 57 (8): 453-63.
[17]	van der Zanden LF, van Rooij IA, Feitz WF, Franke B, Knoers NV, Roeleveld N. 2012. Aetiology of hypospadias: a systematic review of genes and environment. Human reproduction update; 18 (3): 260-83.
[18]	Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjold A, et al. CXorf6 is a causative gene for hypospadias. Nat Genet. 2006; 38: 1369e71.
[19]	Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, et al. Mastermind-like domain containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testos- terone production, and cont.
[20]	Kalfa N, Sultan C, Baskin LS. Hypospadias: etiology and current research. Urol Clin North Am. 2010; 37: 159e66.
[21]	Baskin LS. 2012. Hypospadias and genital development: Springer Science & Business Media.
[22]	Fernandez MF, Olmos B, Granada A, López-Espinosa MJ, Molina-Molina J-M, Fernandez JM, et al. 2007. Human exposure to endocrine-disrupting chemicals and prenatal risk factors for cryptorchidism and hypospadias: a nested case–control study. Environmental health perspectives; 115 (Suppl 1): 8.
[23]	Hadidi A, Montgomery DA. 2013. Hypospadias surgery: an illustrated guide: Springer Science & Business Media.

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APA Style

Safendra Siregar, Bambang Sasongko Noegroho, Irfan Firmansyah. (2019). Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence. International Journal of Clinical Urology, 3(1), 18-21. https://doi.org/10.11648/j.ijcu.20190301.15

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ACS Style

Safendra Siregar; Bambang Sasongko Noegroho; Irfan Firmansyah. Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence. Int. J. Clin. Urol. 2019, 3(1), 18-21. doi: 10.11648/j.ijcu.20190301.15

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AMA Style

Safendra Siregar, Bambang Sasongko Noegroho, Irfan Firmansyah. Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence. Int J Clin Urol. 2019;3(1):18-21. doi: 10.11648/j.ijcu.20190301.15

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@article{10.11648/j.ijcu.20190301.15,
  author = {Safendra Siregar and Bambang Sasongko Noegroho and Irfan Firmansyah},
  title = {Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence},
  journal = {International Journal of Clinical Urology},
  volume = {3},
  number = {1},
  pages = {18-21},
  doi = {10.11648/j.ijcu.20190301.15},
  url = {https://doi.org/10.11648/j.ijcu.20190301.15},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcu.20190301.15},
  abstract = {Introduction: Hypospadias is a condition in which the urethral orifice is located on the ventral side of the penis proximal to the tip of the glans, from the balanopreputial sulcus to the perineal area. The gene thought to play a role in the occurrence of hypospadias was the mastermind-like domain gene containing 1 (MAMLD1) or previously known as the CXorf6 gene (chromosome X opens reading frame 6). Aims: This study aims to look at the relationship between the gene mutation of MAMLD1 with hypospadias incidence. Methods: This study is observational analysis with case-control as design studies. The subjects are male patients who diagnose as having hypospadias based on examinations conduct at the Department of Urology Dr. Hasan Sadikin Bandung. The study will be conduct in May 2018 - April 2019. DNA is taken from the skin of penile prepuce in both the case group and the control group. DNA extraction using the Homebrew method at the Eykman Laboratory, Padjadjaran University, Bandung. Mutation analysis will carried out by exon sequencing of MAMLD1 coding using the direct sequencing standard method at the Eykman Genetic Laboratory, Padjadjaran University, Bandung. The data that has been obtained will be analyzed using the chi-square correlation test method, if the chi square requirements are not met, then use the fisher test exact. Results: Average age of patients operated was between 4 – 18 years old and the most frequent type of hypospadias was distal Type. No MAMLD1 polymorphisms were found in experimental group and control groups. Result of MAMLD1 gene sequencing showed there were no mutation in any sample. In other words, from all hypospadias and control patient who were sequenced, the mutation rate was 0%. Conclusion: From this study we concluded that MAMLD1 gene mutation were not different between hypospadias and control groups. We didn’t found any MAMLD1 mutation ether in hyposphadia groups or control groups. There was no correlation between MAMLD1 gene mutation with hypospadias incidence.},
 year = {2019}
}

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TY - JOUR
T1 - Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence
AU - Safendra Siregar
AU - Bambang Sasongko Noegroho
AU - Irfan Firmansyah
Y1 - 2019/09/09
PY - 2019
N1 - https://doi.org/10.11648/j.ijcu.20190301.15
DO - 10.11648/j.ijcu.20190301.15
T2 - International Journal of Clinical Urology
JF - International Journal of Clinical Urology
JO - International Journal of Clinical Urology
SP - 18
EP - 21
PB - Science Publishing Group
SN - 2640-1355
UR - https://doi.org/10.11648/j.ijcu.20190301.15
AB - Introduction: Hypospadias is a condition in which the urethral orifice is located on the ventral side of the penis proximal to the tip of the glans, from the balanopreputial sulcus to the perineal area. The gene thought to play a role in the occurrence of hypospadias was the mastermind-like domain gene containing 1 (MAMLD1) or previously known as the CXorf6 gene (chromosome X opens reading frame 6). Aims: This study aims to look at the relationship between the gene mutation of MAMLD1 with hypospadias incidence. Methods: This study is observational analysis with case-control as design studies. The subjects are male patients who diagnose as having hypospadias based on examinations conduct at the Department of Urology Dr. Hasan Sadikin Bandung. The study will be conduct in May 2018 - April 2019. DNA is taken from the skin of penile prepuce in both the case group and the control group. DNA extraction using the Homebrew method at the Eykman Laboratory, Padjadjaran University, Bandung. Mutation analysis will carried out by exon sequencing of MAMLD1 coding using the direct sequencing standard method at the Eykman Genetic Laboratory, Padjadjaran University, Bandung. The data that has been obtained will be analyzed using the chi-square correlation test method, if the chi square requirements are not met, then use the fisher test exact. Results: Average age of patients operated was between 4 – 18 years old and the most frequent type of hypospadias was distal Type. No MAMLD1 polymorphisms were found in experimental group and control groups. Result of MAMLD1 gene sequencing showed there were no mutation in any sample. In other words, from all hypospadias and control patient who were sequenced, the mutation rate was 0%. Conclusion: From this study we concluded that MAMLD1 gene mutation were not different between hypospadias and control groups. We didn’t found any MAMLD1 mutation ether in hyposphadia groups or control groups. There was no correlation between MAMLD1 gene mutation with hypospadias incidence.
VL - 3
IS - 1
ER -

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Author Information

Safendra Siregar

Department of Urology, Faculty of Medicine Universitas Padjadjaran, Dr. Hasan Sadikin Hospital, Bandung, Indonesia
Bambang Sasongko Noegroho

Department of Urology, Faculty of Medicine Universitas Padjadjaran, Dr. Hasan Sadikin Hospital, Bandung, Indonesia
Irfan Firmansyah

Department of Urology, Faculty of Medicine Universitas Padjadjaran, Dr. Hasan Sadikin Hospital, Bandung, Indonesia

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APA Style

Safendra Siregar, Bambang Sasongko Noegroho, Irfan Firmansyah. (2019). Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence. International Journal of Clinical Urology, 3(1), 18-21. https://doi.org/10.11648/j.ijcu.20190301.15

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ACS Style

Safendra Siregar; Bambang Sasongko Noegroho; Irfan Firmansyah. Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence. Int. J. Clin. Urol. 2019, 3(1), 18-21. doi: 10.11648/j.ijcu.20190301.15

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AMA Style

Safendra Siregar, Bambang Sasongko Noegroho, Irfan Firmansyah. Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence. Int J Clin Urol. 2019;3(1):18-21. doi: 10.11648/j.ijcu.20190301.15

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@article{10.11648/j.ijcu.20190301.15,
  author = {Safendra Siregar and Bambang Sasongko Noegroho and Irfan Firmansyah},
  title = {Correlation Between Matermind-Like Domain Containing 1 (MAMLD1) Gene Mutation with Hypospadias Incidence},
  journal = {International Journal of Clinical Urology},
  volume = {3},
  number = {1},
  pages = {18-21},
  doi = {10.11648/j.ijcu.20190301.15},
  url = {https://doi.org/10.11648/j.ijcu.20190301.15},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcu.20190301.15},
  abstract = {Introduction: Hypospadias is a condition in which the urethral orifice is located on the ventral side of the penis proximal to the tip of the glans, from the balanopreputial sulcus to the perineal area. The gene thought to play a role in the occurrence of hypospadias was the mastermind-like domain gene containing 1 (MAMLD1) or previously known as the CXorf6 gene (chromosome X opens reading frame 6). Aims: This study aims to look at the relationship between the gene mutation of MAMLD1 with hypospadias incidence. Methods: This study is observational analysis with case-control as design studies. The subjects are male patients who diagnose as having hypospadias based on examinations conduct at the Department of Urology Dr. Hasan Sadikin Bandung. The study will be conduct in May 2018 - April 2019. DNA is taken from the skin of penile prepuce in both the case group and the control group. DNA extraction using the Homebrew method at the Eykman Laboratory, Padjadjaran University, Bandung. Mutation analysis will carried out by exon sequencing of MAMLD1 coding using the direct sequencing standard method at the Eykman Genetic Laboratory, Padjadjaran University, Bandung. The data that has been obtained will be analyzed using the chi-square correlation test method, if the chi square requirements are not met, then use the fisher test exact. Results: Average age of patients operated was between 4 – 18 years old and the most frequent type of hypospadias was distal Type. No MAMLD1 polymorphisms were found in experimental group and control groups. Result of MAMLD1 gene sequencing showed there were no mutation in any sample. In other words, from all hypospadias and control patient who were sequenced, the mutation rate was 0%. Conclusion: From this study we concluded that MAMLD1 gene mutation were not different between hypospadias and control groups. We didn’t found any MAMLD1 mutation ether in hyposphadia groups or control groups. There was no correlation between MAMLD1 gene mutation with hypospadias incidence.},
 year = {2019}
}

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