Coexistence of genetic conditions: Exploring a possible relationship

Bothainah Yousef Alaqeel; Amir  Babakir; Fuad  Al Mutairi; Mohammed  Al Dubayee

doi:10.24911/SJP.106-1554459680

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Sudan J Paed. 2019; 19(1): 60-66

doi: 10.24911/SJP.106-1554459680

Coexistence of genetic conditions: Exploring a possible relationship

Bothainah Yousef Alaqeel , Amir Babakir, Fuad Al Mutairi, Mohammed Al Dubayee.

Abstract
We report on a young boy who has congenital adrenal hyperplasia (CAH) and a suspected Van Maldergem syndrome (VMLDS), another genetic condition that our patient showed its classic phenotype and was supported by a genetic test that showed a novel likely pathogenic variant in a previously described gene of the syndrome. Pediatricians do encounter the challenge of coexisting genetic conditions albeit infrequently, and advanced genetic analysis, example whole exome sequencing (WES), increasingly report variants of unknown significance with a variable degree of potential pathogenicity. The treating physician needs to follow a systematic approach and entertain a thorough literature search and brainstorming in order to identify any possible relationship between coexisting genetic conditions. The first step should be confirming the existence of the two conditions. However, when family segregation is unable to confidently make a sensible conclusion, a clinician should proceed to advanced functional studies to unveil any hidden relationship between coexisting and clinically likely related genetic conditions.

Key words: Congenital adrenal hyperplasia; Hippo pathway; Van Maldergem syndrome.

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Pubmed Style

BYA, AB, FAM, Dubayee MA, . Coexistence of genetic conditions: Exploring a possible relationship. Sudan J Paed. 2019; 19(1): 60-66. doi:10.24911/SJP.106-1554459680

Web Style

BYA, AB, FAM, Dubayee MA, . Coexistence of genetic conditions: Exploring a possible relationship. https://sudanjp.com//?mno=41860 [Access: June 21, 2024]. doi:10.24911/SJP.106-1554459680

AMA (American Medical Association) Style

BYA, AB, FAM, Dubayee MA, . Coexistence of genetic conditions: Exploring a possible relationship. Sudan J Paed. 2019; 19(1): 60-66. doi:10.24911/SJP.106-1554459680

Vancouver/ICMJE Style

BYA, AB, FAM, Dubayee MA, . Coexistence of genetic conditions: Exploring a possible relationship. Sudan J Paed. (2019), [cited June 21, 2024]; 19(1): 60-66. doi:10.24911/SJP.106-1554459680

Harvard Style

, B. Y. A. ., , A. B., , F. A. M., Dubayee, M. A. & (2019) Coexistence of genetic conditions: Exploring a possible relationship. Sudan J Paed, 19 (1), 60-66. doi:10.24911/SJP.106-1554459680

Turabian Style

, Bothainah Yousef Alaqeel , Amir Babakir, Fuad Al Mutairi, Mohammed Al Dubayee, and . 2019. Coexistence of genetic conditions: Exploring a possible relationship. Sudanese Journal of Paediatrics, 19 (1), 60-66. doi:10.24911/SJP.106-1554459680

Chicago Style

, Bothainah Yousef Alaqeel , Amir Babakir, Fuad Al Mutairi, Mohammed Al Dubayee, and . "Coexistence of genetic conditions: Exploring a possible relationship." Sudanese Journal of Paediatrics 19 (2019), 60-66. doi:10.24911/SJP.106-1554459680

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

, B. Y. A. ., , A. B., , F. A. M., Dubayee, M. A. & (2019) Coexistence of genetic conditions: Exploring a possible relationship. Sudanese Journal of Paediatrics, 19 (1), 60-66. doi:10.24911/SJP.106-1554459680

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