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2024, Vol: 2, Issue: 2
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Research Article

Online Publishing Date:
31 / 10 / 2023

 


A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]

Shaile Bandla, Dr. Srinadh Buraggada, Dr.Soumya Peruchala.


Abstract
ABSTRACT

Background: Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. It is categorized into Herlitz type and Non-Herlitz types. JEB is inherited in an autosomal recessive pattern and the most common genetic mutations associated are LAMB3, COL17A1, or LAMC2, and LAMA3 genes.

Case presentation: This study reports a consanguineous couple, who are carriers for pathogenic variant for LAMB3 gene, with an affected child with a homozygous mutation in the LAMB3 gene causing Herlitz type of Junctional epidermolysis Bullosa/ Non-Herlitz type of junctional epidermolysis bullosa. Furthermore, prenatal diagnosis for the Gravida also showed the same pathogenic variant.

Conclusion: For autosomal recessive genetic conditions, it is advisable to perform a Trio whole-exome sequencing or next-generation sequencing to detect the genes associated with the disease. Depending on the type of variants involved prenatal diagnosis for the next pregnancy and treatment or management (if available) options can be offered/discussed.

Key words: Keywords: Epidermolysis Bullosa, Skin blistering, Trio-exome sequencing, LAMB3, Autosomal recessive, Prenatal diagnosis


 
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How to Cite this Article
Pubmed Style

Bandla S, Buraggada DS, Peruchala D. A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]. A-JMRHS . 2023; 1(3): 49-51. doi:10.5455/AJMRHS.1107202300012

Web Style

Bandla S, Buraggada DS, Peruchala D. A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]. https://www.ajmrhs.com/?mno=149995 [Access: March 14, 2024]. doi:10.5455/AJMRHS.1107202300012

AMA (American Medical Association) Style

Bandla S, Buraggada DS, Peruchala D. A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]. A-JMRHS . 2023; 1(3): 49-51. doi:10.5455/AJMRHS.1107202300012


Vancouver/ICMJE Style

Bandla S, Buraggada DS, Peruchala D. A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]. A-JMRHS . (2023), [cited March 14, 2024]; 1(3): 49-51. doi:10.5455/AJMRHS.1107202300012


Harvard Style

Bandla, S., Buraggada, . D. S. & Peruchala, . D. (2023) A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]. A-JMRHS , 1 (3), 49-51. doi:10.5455/AJMRHS.1107202300012


Turabian Style

Bandla, Shaile, Dr. Srinadh Buraggada, and Dr.Soumya Peruchala. 2023. A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]. Asian Journal of Medical Research & Health Sciences (A-JMRHS), 1 (3), 49-51. doi:10.5455/AJMRHS.1107202300012


Chicago Style

Bandla, Shaile, Dr. Srinadh Buraggada, and Dr.Soumya Peruchala. "A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]." Asian Journal of Medical Research & Health Sciences (A-JMRHS) 1 (2023), 49-51. doi:10.5455/AJMRHS.1107202300012


MLA (The Modern Language Association) Style

Bandla, Shaile, Dr. Srinadh Buraggada, and Dr.Soumya Peruchala. "A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]." Asian Journal of Medical Research & Health Sciences (A-JMRHS) 1.3 (2023), 49-51. Print. doi:10.5455/AJMRHS.1107202300012


APA (American Psychological Association) Style

Bandla, S., Buraggada, . D. S. & Peruchala, . D. (2023) A Case study showing a Novel gene mutation in LAMB3 causing Junctional Epidermolysis Bullosa [Intermediate/Severe]. Asian Journal of Medical Research & Health Sciences (A-JMRHS), 1 (3), 49-51. doi:10.5455/AJMRHS.1107202300012


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