CHARACTERISATION OF A NOVEL METABOLIC DEFECT IN PROLINE SYNTHESIS AND PATHOMECHANISM IN AUTOSOMAL RECESSIVE CUTIS LAXA SYNDROME TYPE 2B

被引:0
|
作者
Gardeitchik, T. [1 ]
Fischer, B. [2 ]
Kouwenberg, D. [1 ]
Mohamed, M. [1 ]
Komak, U. [2 ]
Nijtmans, L. [1 ]
Morava, E. [1 ]
机构
[1] Radboud Univ Nijmegen MC, Nijmegen, Netherlands
[2] Charite, D-13353 Berlin, Germany
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:S25 / S25
页数:1
相关论文
共 41 条
  • [21] Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2
    Shangguan, Shaofang
    Zhang, Xueyuan
    Ge, Yangyang
    Han, Ye
    Xiao, Ling
    Zhang, Yu
    Xie, Hua
    Chen, Xiaoli
    Wang, Xiaoyan
    MOLECULAR GENETICS AND GENOMICS, 2024, 299 (01)
  • [22] Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families
    Zaman, Qaiser
    Iftikhar, Aiman
    Rehman, Gauhar
    Khan, Qadeem
    Najumuddin, Amin
    Jan, Amin
    Khan, Jamshid
    Anas, Muhammad
    Liba, Osama Yousef
    Umair, Muhammad
    Muthaffar, Osama Yousef
    Abdulkareem, Angham Abdulrhman
    Bibi, Fehmida
    Naseer, Muhammad Imran
    Jelani, Musharraf
    JOURNAL OF GENE MEDICINE, 2023, 25 (10):
  • [23] Clinical and pathological characteristics of autosomal recessive limb-girdle muscular dystrophy type 2B in Korea
    Choi, YC
    Oh, SH
    Park, KD
    Kim, TS
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 647 - 648
  • [24] Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa
    Mohamed, Miski
    Gardeitchik, Thatjana
    Balasubramaniam, Shanti
    Guerrero-Castillo, Sergio
    Dalloyaux, Daisy
    van Kraaij, Sanne
    Venselaar, Hanka
    Hoischen, Alexander
    Urban, Zsolt
    Brandt, Ulrich
    Al-Shawi, Raya
    Simons, J. Paul
    Frison, Michele
    Ngu, Lock-Hock
    Callewaert, Bert
    Spelbrink, Hans
    Kallemeijn, Wouter W.
    Aerts, Johannes M. F. G.
    Waugh, Mark G.
    Morava, Eva
    Wevers, Ron A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2020, 43 (06) : 1382 - 1391
  • [25] Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C
    Gupta, Neerja
    Langeh, Nitika
    Sridharan, Aparajit
    Kabra, Madhulika
    JOURNAL OF PEDIATRIC GENETICS, 2020, 9 (02) : 125 - 131
  • [26] Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
    Handley, Mark T.
    Megarbane, Andre
    Meynert, Alison M.
    Brown, Stephen
    Freyer, Elisabeth
    Taylor, Martin S.
    Jackson, Ian J.
    Aligianis, Irene A.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2014, 2 (04): : 319 - 325
  • [27] A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B
    Spadafora, Patrizia
    Qualtieri, Antonio
    Cavalcanti, Francesca
    Di Palma, Gemma
    Gallo, Olivier
    De Benedittis, Selene
    Cerantonio, Annamaria
    Citrigno, Luigi
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (16)
  • [28] One gene, two phenotypes:: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B
    Afzal, AR
    Jeffery, S
    HUMAN MUTATION, 2003, 22 (01) : 1 - 11
  • [29] Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review
    Ritelli, Marco
    Cammarata-Scalisi, Francisco
    Cinquina, Valeria
    Colombi, Marina
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (07):
  • [30] Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
    Patil, Siddaramappa Jagdish
    Das Bhowmik, Aneek
    Bhat, Venkatraman
    Vineeth, Venugopal Satidevi
    Vasudevamurthy, Rashmi
    Dalal, Ashwin
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (05) : 1200 - 1206