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 [J].
Akerman, BR ;
Lemass, H ;
Chow, LML ;
Lambert, DM ;
Greenberg, C ;
Bibeau, C ;
Mamer, OA ;
Treacy, EP .
MOLECULAR GENETICS AND METABOLISM, 1999, 68 (01) :24-31
[2]   Polyalanine expansions in human [J].
Amiel, J ;
Trochet, D ;
Clément-Ziza, M ;
Munnich, A ;
Lyonnet, S .
HUMAN MOLECULAR GENETICS, 2004, 13 :R235-R243
[3]   Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity [J].
Arber, S ;
Han, B ;
Mendelsohn, M ;
Smith, M ;
Jessell, TM ;
Sockanathan, S .
NEURON, 1999, 23 (04) :659-674
[4]   HEREDITARY PRESACRAL TERATOMA [J].
ASHCRAFT, KW ;
HOLDER, TM .
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 [J].
Belloni, E ;
Martucciello, G ;
Verderio, D ;
Ponti, E ;
Seri, M ;
Jasonni, V ;
Torre, M ;
Ferrari, M ;
Tsui, LC ;
Scherer, SW .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) :312-319
[7]   Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children [J].
Chalmers, RA ;
Bain, MD ;
Michelakakis, H ;
Zschocke, J ;
Iles, RA .
JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (01) :162-172
[8]   Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation [J].
Cretolle, C. ;
Pelet, A. ;
Sanlaville, D. ;
Zerah, A. ;
Amiel, J. ;
Jaubert, E. ;
Revillon, Y. ;
Baala, L. ;
Munnich, A. ;
Nihou-Fekete, C. ;
Lyonnet, S. .
HUMAN MUTATION, 2008, 29 (07) :903-910
[9]   TRIAD OF ANORECTAL, SACRAL, AND PRESACRAL ANOMALIES [J].
CURRARINO, G ;
COLN, D ;
VOTTELER, T .
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 [J].
D'Angelo R. ;
Scimone C. ;
Esposito T. ;
Bruschetta D. ;
Rinaldi C. ;
Ruggeri A. ;
Sidoti A. .
Journal of Medical Case Reports, 8 (1)