E-ISSN 2583-7761
 
2025, Vol: 3, Issue: 2
3 / 2Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles

Research Article
Online Published: 31 Oct 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


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Shaile Bandla
Articles by Dr. Srinadh Buraggada
Articles by Dr.Soumya Peruchala
on Google
on Google Scholar


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: August 16, 2025]. 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 August 16, 2025]; 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




Most Viewed Articles
Most Accessed Articles

  • A PROSPECTIVE STUDY ON SURGICAL SITE INFECTIONS AT A TERTIARY CARE CENTER
    Dr.Bharath Kumar Nandavaram , Dr.Chinna Malleswari M
    A-JMRHS . 2023; 1(1): 5-8
    » Abstract » doi: 10.5455/AJMRHS.

  • ACUTE FLACCID PARALYSIS PRESENTING AS RENAL TUBULAR ACIDOSIS IN A CHILD: A CASE REPORT
    KunalRajKumar Agrawal1, SVS Yashwant2, G Preethi Nagaraj3, k. shireesha4 .
    A-JMRHS . 2023; 1(1): 1-2
    » Abstract » doi: 10.5455/AJMRHS.110720230004

  • OBSERVATIONAL STUDY ON ROLE OF NEUROSONOGRAM IN INTRACRANIAL PATHOLOGIES IN NEONATES AT A TERTIARY CARE CENTER.
    Meghana Shiny Repalle, Pravin Raj Thillai, Shivani Gogi
    A-JMRHS . 2023; 1(1): 9-15
    » Abstract » doi: 10.5455/AJMRHS.110720230001

  • ARNOLD CHIARI-II MALFORMATION : A RARE CASE REPORT WITH PRENATAL SONOGRAPHIC FINDINGS.
    Ramya Krishna Kudaravalli, Harish Chilakala
    A-JMRHS . 2023; 1(1): 3-4
    » Abstract » doi: 10.5455/AJMRHS.110720230003

  • “CORRELATION BETWEEN LUMBO-SACRAL ANGLE AND PROPRIOCEPTION IN SUBJECTS WITH CHRONIC LOW BACK PAIN”
    Aditya Vyas, Nagaraj Sibbala
    A-JMRHS . 2023; 1(1): 16-22
    » Abstract » doi: 10.5455/AJMRHS.110720230005

    •
    Most Downloaded
    Top Downloaded Articles

  • Partial Hydatidiform Mole and Coexistent Live Fetus with anencephaly: A Rare Case Report
    Neha Anjum, Sowmya Uppalapati, Sriya Gudavarthi , Anthapu Keerthi Reddy, Kalla Mounica
    A-JMRHS . 2023; 1(2): 29-32
    » Abstract » doi: 10.5455/AJMRHS.110720230008

  • ACUTE FLACCID PARALYSIS PRESENTING AS RENAL TUBULAR ACIDOSIS IN A CHILD: A CASE REPORT
    KunalRajKumar Agrawal1, SVS Yashwant2, G Preethi Nagaraj3, k. shireesha4 .
    A-JMRHS . 2023; 1(1): 1-2
    » Abstract » doi: 10.5455/AJMRHS.110720230004

  • A RARE CASE Of EXTENSIVE ABDOMINAL HYDATIDOSIS (Hepatic, mesenteric, peritoneal and Splenic)
    SATENDER SINGH , DIVYA. J
    A-JMRHS . 2023; 1(2): 23-25
    » Abstract » doi: 10.5455/AJMRHS.110720230006

  • “CORRELATION BETWEEN LUMBO-SACRAL ANGLE AND PROPRIOCEPTION IN SUBJECTS WITH CHRONIC LOW BACK PAIN”
    Aditya Vyas, Nagaraj Sibbala
    A-JMRHS . 2023; 1(1): 16-22
    » Abstract » doi: 10.5455/AJMRHS.110720230005

  • A PROSPECTIVE STUDY ON SURGICAL SITE INFECTIONS AT A TERTIARY CARE CENTER
    Dr.Bharath Kumar Nandavaram , Dr.Chinna Malleswari M
    A-JMRHS . 2023; 1(1): 5-8
    » Abstract » doi: 10.5455/AJMRHS.

    •
    Most Cited Articles
    Most Cited Articles

  • A PROSPECTIVE STUDY ON SURGICAL SITE INFECTIONS AT A TERTIARY CARE CENTER
    Dr.Bharath Kumar Nandavaram , Dr.Chinna Malleswari M
    A-JMRHS . 2023; 1(1): 5-8
    » Abstract » doi: 10.5455/AJMRHS.
    Cited : 0 time [Click to see citing article]

    •

    About Asian Journal of Medical Research & Health Sciences (A-JMRHS)

    Asian Journal Medical Research and Health Sciences: An International Journal (A-JMRHS)  ISSN: 2583-7761 (Online)A-JMRHS(E 2583-7761) Double-blind peer-r ... Read more.



    For best results, please use Internet Explorer or Google Chrome.

    Contact Information

    SCOPE MED Publisher (Belgium)

    14 Rue de Grand-Bigard,

    1082 Brussels, Belgium,

    contact@scopemed.com

    +3216843716,

    BTW:BE0798843795,


    Medicolegal publications.

    1-10-28/231/117,Nagarjuna Nagar colony,ECIL post,

    ,Kushai Guda, Hyderabd,

    Telangana,

    500062,

    India.
    POLICIES & JOURNAL LINKS
    Author Login
    Reviewer Login
    Author LoginReviewer LoginAbout PublisherEditorial PoliciesEditorial Review PolicyPeer Review PolicyEditorial & Peer Review ProcessAuthor's Rights and ObligationsPublication Ethics and Publication Malpractice StatementConflict of Interest PolicyPlagiarism PolicyProtection of Research Participants (Statement On Human And Animal Rights)Privacy PolicyCorrections, Retractions & Expressions of ConcernSelf-Archiving PoliciesDigital Archiving & Preservation PoliciesStatement of Informed ConsentAdvertising PolicyTerms of UseLicense InformationCopyright Information