Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report

被引:0
作者
Ortiz-Santiago, Ana [1 ]
Ramos, Edwardo [1 ]
机构
[1] Univ Puerto Rico, Sch Med, Phys Med & Rehabil, San Juan, PR 00936 USA
关键词
GDAP1; Charcot-Marie-Tooth disease; axonal neuropathy; pes-cavus; GENE;
D O I
10.3233/PRM-200695
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Charcot-Marie-Tooth disease (CMT) is a progressive hereditary neuromuscular neuropathy with pathology in the myelin sheath or the axon. CMT caused by mutations in the Ganglioside-induced differentiation associated protein 1 (GDAP1) gene has been described by a spectrum of phenotypic presentations. GDAP1 is a mitochondrial protein responsible for protecting neuronal bodies from oxidative stress. It is associated with axonal and demyelinating pathophysiology with recessive and dominant modes of inheritance.We describe a case of a 9-year-old Puerto Rican female with clinical and electrodiagnostic results compatible with an axonal sensory-motor neuropathy where a genetic test describes a homozygous GDAP1 missense mutation at the c.692C>T (p.Pro231Leu), previously undetected in a pediatric Latino patient. Mutations in GDAP1 have been previously described in Tunisian, Old Order Amish, European and Japanese families with varying modes of inheritance. To our knowledge, this homozygous variant presentation of the GDAP1 gene is the first to be described in a pediatric Puerto Rican patient without a family history of hereditary sensory motor neuropathy.
引用
收藏
页码:533 / 537
页数:5
相关论文
共 11 条
  • [1] Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations
    Cassereau, Julien
    Chevrollier, Arnaud
    Gueguen, Naig
    Desquiret, Valerie
    Verny, Christophe
    Nicolas, Guillaume
    Dubas, Frederic
    Amati-Bonneau, Patrizia
    Reynier, Pascal
    Bonneau, Dominique
    Procaccio, Vincent
    [J]. EXPERIMENTAL NEUROLOGY, 2011, 227 (01) : 31 - 41
  • [2] Kabzinska D, 2014, ACTA BIOCHIM POL, V61, P739
  • [3] AMPK activation negatively regulates GDAP1, which influences metabolic processes and circadian gene expression in skeletal muscle
    Lassiter, David G.
    Sjogren, Rasmus J. O.
    Gabriel, Brendan M.
    Krook, Anna
    Zierath, Juleen R.
    [J]. MOLECULAR METABOLISM, 2018, 16 : 12 - 23
  • [4] GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
    Niemann, Axel
    Wagner, Konstanze Marion
    Ruegg, Marcel
    Suter, Ueli
    [J]. NEUROBIOLOGY OF DISEASE, 2009, 36 (03) : 509 - 520
  • [5] Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease
    Noto, Yu-ichi
    Shiga, Kensuke
    Tsuji, Yukiko
    Mizuta, Ikuko
    Higuchi, Yujiro
    Hashiguchi, Akihiro
    Takashima, Hiroshi
    Nakagawa, Masanori
    Mizuno, Toshiki
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2015, 86 (04) : 378 - 384
  • [6] Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations
    Pakhrin, Pukar Singh
    Xie, Yongzhi
    Hu, Zhengmao
    Li, Xiaobo
    Liu, Lei
    Huang, Shunxiang
    Wang, Binghao
    Yang, Zihan
    Zhang, Jiejun
    Liu, Xin
    Xia, Kun
    Tang, Beisha
    Zhang, Ruxu
    [J]. JOURNAL OF NEUROLOGY, 2018, 265 (03) : 637 - 646
  • [7] Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease
    Phuong-Thao Mai
    Dong-Truc Le
    Tan-Trung Nguyen
    Hoang-Linh Le Gia
    Trung-Hieu Nguyen Le
    Minh Le
    Duc-Minh Do
    [J]. BIOMED RESEARCH INTERNATIONAL, 2019, 2019
  • [8] Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease
    Pla-Martin, David
    Calpena, Eduardo
    Lupo, Vincenzo
    Marquez, Celedonio
    Rivas, Eloy
    Sivera, Rafael
    Sevilla, Teresa
    Palau, Francesc
    Espinos, Carmen
    [J]. HUMAN MOLECULAR GENETICS, 2015, 24 (01) : 213 - 229
  • [9] A role for the GDAP1 gene in the molecular pathogenesis of Charcot-Marie-Tooth disease
    Rzepnikowska, Weronika
    Kochanski, Andrzej
    [J]. ACTA NEUROBIOLOGIAE EXPERIMENTALIS, 2018, 78 (01) : 1 - 13
  • [10] Vivar C, 2019, NEUROLOGY, V92