Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh

被引：0

作者：

Khan, Md. Azraf Hossain ^{[1
]}

Abu Reza, Md. ^{[2
]}

Sharaf, Ibrahim Md. ^{[1
]}

Alam, Md. Jahangir ^{[2
]}

Rahman, Md. Mostafizur ^{[1
]}

Chandra, Pampa ^{[1
]}

Anwar, Kazi Selim ^{[3
]}

Salam, Md. Abdus ^{[4
]}

机构：

[1] Rajshahi Med Coll Hosp, Dept Dermatol & Venereol, Rajshahi, Bangladesh

[2] Univ Rajshahi, Dept Genet Engn & Biotechnol, Mol Biol & Prot Sci Lab, Rajshahi, Bangladesh

[3] Ad din Womens Med Coll, Ad din Res Unit ARU, Bara Maghbazar, Dhaka, Bangladesh

[4] Int Islamic Univ Malaysia, Fac Med, Dept Basic Med Sci, Kuala Lumpur, Malaysia

来源：

PAKISTAN JOURNAL OF MEDICAL SCIENCES | 2023年 / 39卷 / 04期

关键词：

Lipoid proteinosis; Extracellular matrix protein 1 gene (ECM1); Nonsense mutation in exon-8; 1246(c.1246C>T); Hoarseness of voice; Bangladesh; MOLECULAR CHARACTERIZATION;

D O I：

10.12669/pjms.39.4.7437

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1212 / 1215

页数：4

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