A Novel Homozygous 62bp Insertion In ECM1 Gene Causes Lipoid Proteinosis In A Multigenerational Pakistani Family

被引:0
|
作者
Hameed, Abdul [1 ]
Nasir, M. [1 ]
Ajmal, M. [1 ]
Latif, A. [1 ]
机构
[1] Leprosy Hosp Rawalpindi, Rawalpindi, Pakistan
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:S64 / S64
页数:1
相关论文
共 49 条
  • [31] Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis
    Muhammad Nasir
    Simeen Ber Rahman
    Christian M. K. Sieber
    Asif Mir
    Amir Latif
    Nafees Ahmad
    Salman Akbar Malik
    Abdul Hameed
    Molecular Biology Reports, 2014, 41 : 2085 - 2092
  • [32] Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)
    Hamada, T
    McLean, WHI
    Ramsay, M
    Ashton, GHS
    Nanda, A
    Jenkins, T
    Edelstein, I
    South, AP
    Bleck, O
    Wessagowit, V
    Mallipeddi, R
    Orchard, GE
    Wan, H
    Dopping-Hepenstal, PJC
    Mellerio, JE
    Whittock, NV
    Munro, CS
    van Steensel, MAM
    Steijlen, PM
    Ni, J
    Zhang, LR
    Hashimoto, T
    Eady, RAJ
    McGrath, JA
    HUMAN MOLECULAR GENETICS, 2002, 11 (07) : 833 - 840
  • [33] Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis
    Nasir, Muhammad
    Rahman, Simeen Ber
    Sieber, Christian M. K.
    Mir, Asif
    Latif, Amir
    Ahmad, Nafees
    Malik, Salman Akbar
    Hameed, Abdul
    MOLECULAR BIOLOGY REPORTS, 2014, 41 (04) : 2085 - 2092
  • [34] Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh
    Khan, Md. Azraf Hossain
    Abu Reza, Md.
    Sharaf, Ibrahim Md.
    Alam, Md. Jahangir
    Rahman, Md. Mostafizur
    Chandra, Pampa
    Anwar, Kazi Selim
    Salam, Md. Abdus
    PAKISTAN JOURNAL OF MEDICAL SCIENCES, 2023, 39 (04) : 1212 - 1215
  • [35] Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation (vol 120, pg 345, 2003)
    Hamada
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 123 (04) : 805 - 806
  • [36] A Chinese family with lipoid proteinosis resulting from a homozygous missense mutation in the extracellular matrix protein 1 gene
    Wang, X-P
    Huo, J.
    Liu, Y.
    Wang, W-J
    Xu, Q-Q
    Ma, J-H
    An, J-G
    Wang, J-M
    Xiao, S-X
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2009, 23 (11) : 1336 - 1338
  • [37] Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis
    Xu, Mengjun
    Zhou, Jiong
    Yan, Jianliang
    Wang, Jianyou
    CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY, 2023, 16 : 1515 - 1519
  • [38] Lipoid Proteinosis: Identification of Two Novel Mutations in the Human ECM-1 Gene and Lack of Genotype-Phenotype Correlation
    Horev, Liran
    Wollina, Uwe
    Potikha, Tamara
    Hafner, Ariela
    Ingber, Arieh
    Liu, Lu
    McGrath, John A.
    Zlotogorski, Abraham
    ACTA DERMATO-VENEREOLOGICA, 2009, 89 (05) : 528 - 529
  • [39] A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family
    Munir, Asad
    Khan, Inam Ullah
    Rashid, Abdur
    Anwar, Ijaz
    Shah, Sabawoon
    Oreshkov, Sergey
    Ullah, Mukhtar
    Khan, Haider Ali
    Ullah, Ubaid
    Ahmad, Ashfaq
    Ansar, Muhammad
    Rehman, Atta Ur
    OPHTHALMIC GENETICS, 2025, 46 (01) : 47 - 55
  • [40] A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia
    Tariq, Muhammad
    Wasif, Naveed
    Ayub, Muhammad
    Ahmad, Wasim
    EUROPEAN JOURNAL OF DERMATOLOGY, 2007, 17 (03) : 209 - 212