First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation

被引:3
作者
Scimone, Concetta [1 ,2 ]
Donato, Luigi [1 ,2 ]
Rinaldi, Carmela [1 ]
Sidoti, Antonina [1 ,2 ]
D'Angelo, Rosalia [1 ]
机构
[1] Univ Messina, Div Mol Genet & Prevent Med, Dept Biomed & Dent Sci & Morphofunct Imaging, Via C Valeria 1, I-98125 Messina, Italy
[2] IEMEST, Sect Mol Genet Appl Neurosci & Predict Med, Dept Cutting Edge Med & Therapies Biomol Strategi, Palermo, Italy
关键词
DOMINANT SACRAL AGENESIS; HLXB9 HOMEOBOX GENE; MUTATIONS; FMO3; POLYMORPHISMS; TRIAD; EXPRESSION; DIAGNOSIS; GENOTYPE; SPECTRUM;
D O I
10.1111/1751-2980.12373
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:628 / 632
页数:5
相关论文
共 31 条
  • [1] Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort
    Akerman, BR
    Lemass, H
    Chow, LML
    Lambert, DM
    Greenberg, C
    Bibeau, C
    Mamer, OA
    Treacy, EP
    [J]. MOLECULAR GENETICS AND METABOLISM, 1999, 68 (01) : 24 - 31
  • [2] Polyalanine expansions in human
    Amiel, J
    Trochet, D
    Clément-Ziza, M
    Munnich, A
    Lyonnet, S
    [J]. HUMAN MOLECULAR GENETICS, 2004, 13 : R235 - R243
  • [3] Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity
    Arber, S
    Han, B
    Mendelsohn, M
    Smith, M
    Jessell, TM
    Sockanathan, S
    [J]. NEURON, 1999, 23 (04) : 659 - 674
  • [4] HEREDITARY PRESACRAL TERATOMA
    ASHCRAFT, KW
    HOLDER, TM
    [J]. JOURNAL OF PEDIATRIC SURGERY, 1974, 9 (05) : 691 - 697
  • [5] Basarab T, 1999, BRIT J DERMATOL, V140, P164
  • [6] Involvement of the HLXB9 homeobox gene in Currarino syndrome
    Belloni, E
    Martucciello, G
    Verderio, D
    Ponti, E
    Seri, M
    Jasonni, V
    Torre, M
    Ferrari, M
    Tsui, LC
    Scherer, SW
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) : 312 - 319
  • [7] Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children
    Chalmers, RA
    Bain, MD
    Michelakakis, H
    Zschocke, J
    Iles, RA
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (01) : 162 - 172
  • [8] Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation
    Cretolle, C.
    Pelet, A.
    Sanlaville, D.
    Zerah, A.
    Amiel, J.
    Jaubert, E.
    Revillon, Y.
    Baala, L.
    Munnich, A.
    Nihou-Fekete, C.
    Lyonnet, S.
    [J]. HUMAN MUTATION, 2008, 29 (07) : 903 - 910
  • [9] TRIAD OF ANORECTAL, SACRAL, AND PRESACRAL ANOMALIES
    CURRARINO, G
    COLN, D
    VOTTELER, T
    [J]. AMERICAN JOURNAL OF ROENTGENOLOGY, 1981, 137 (02) : 395 - 398
  • [10] Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: A case report
    D'Angelo R.
    Scimone C.
    Esposito T.
    Bruschetta D.
    Rinaldi C.
    Ruggeri A.
    Sidoti A.
    [J]. Journal of Medical Case Reports, 8 (1)