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Lipoid proteinosis: identification of a novel nonsense mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh

Khan, Md. Azraf Hossain and Reza, Md. Abu and Md. Sharaf, Ibrahim and Alam, Md. Jahangir and Rahman, Md. Mostafizur and Chandra, Pampa and Anwar, Kazi Selim and Salam, Md. Abdus (2023) Lipoid proteinosis: identification of a novel nonsense mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh. Pakistan Journal of Medical Sciences, 39 (4). pp. 1-4. ISSN 1682-024X E-ISSN 1681-715X

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Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice, accelerated photoaging appearance, enlarged and erythematous tongue with restricted movement and widespread dermatoses. Biopsy of oral mucosa revealed Periodic acid-Schiff (PAS)-positive amorphous eosinophilic hyaline deposits. Mutational analysis revealed a homozygous nonsense mutation with C to T substitution at nucleotide position 1246(c.1246C>T) in exon-8 of the extracellular matrix protein 1 gene leading to a stop codon. Both the parents were unaffected heterozygous carriers. To our knowledge, this is the first case report of lipoid proteinosis with evidence of a novel nonsense genetic mutation from Bangladesh.

Item Type: Article (Case Report)
Uncontrolled Keywords: Lipoid proteinosis, Extracellular matrix protein 1 gene (ECM1), Nonsense mutation in exon-8, 1246(c.1246C>T), Hoarseness of voice, Bangladesh
Subjects: R Medicine > RL Dermatology
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): Kulliyyah of Medicine
Kulliyyah of Medicine > Department of Basic Medical
Depositing User: Prof. Dr. Md. Abdus Salam
Date Deposited: 25 May 2023 12:44
Last Modified: 23 Sep 2023 15:55
URI: http://irep.iium.edu.my/id/eprint/104725

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