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
[21]   Mammalian flavin-containing monooxygenases: structure/function, genetic polymorphisms and role in drug metabolism [J].
Krueger, SK ;
Williams, DE .
PHARMACOLOGY & THERAPEUTICS, 2005, 106 (03) :357-387
[22]   Currarino triad: Anorectal malformation, sacral bony abnormality, and presacral mass - A review of 11 cases [J].
Lee, SC ;
Chun, YS ;
Jung, SE ;
Park, KW ;
Kim, WK .
JOURNAL OF PEDIATRIC SURGERY, 1997, 32 (01) :58-61
[23]   Autosomal dominant sacral agenesis: Currarino syndrome [J].
Lynch, SA ;
Wang, YM ;
Strachan, T ;
Burn, J ;
Lindsay, S .
JOURNAL OF MEDICAL GENETICS, 2000, 37 (08) :561-566
[24]   A GENE FOR AUTOSOMAL-DOMINANT SACRAL AGENESIS MAPS TO THE HOLOPROSENCEPHALY REGION AT 7Q36 [J].
LYNCH, SA ;
BOND, PM ;
COPP, AJ ;
KIRWAN, WO ;
NOUR, S ;
BALLING, R ;
MARIMAN, E ;
BURN, J ;
STRACHAN, T .
NATURE GENETICS, 1995, 11 (01) :93-95
[25]   HLXB9 homeobox gene and caudal regression syndrome [J].
Merello, E ;
De Marco, P ;
Mascelli, S ;
Raso, A ;
Calevo, MG ;
Torre, M ;
Cama, A ;
Lerone, M ;
Martucciello, G ;
Capra, V .
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2006, 76 (03) :205-209
[26]   Ethnic differences in allelic frequency of two flavin-containing monooxygenase 3 (FMO3) polymorphisms:: linkage and effects on in vivo and in vitro FMO activities [J].
Park, CS ;
Kang, JH ;
Chung, WG ;
Yi, HG ;
Pie, JE ;
Park, DK ;
Hines, RN ;
McCarver, DG ;
Cha, YN .
PHARMACOGENETICS, 2002, 12 (01) :77-80
[27]   Rare malignant neuroendocrine transformation of a presacral teratoma in patient with currarino syndrome [J].
Pendlimari, Rajesh ;
Leonard, Daniel ;
Dozois, Eric J. .
INTERNATIONAL JOURNAL OF COLORECTAL DISEASE, 2010, 25 (11) :1383-1384
[28]   A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis [J].
Ross, AJ ;
Ruiz-Perez, V ;
Wang, YM ;
Hagan, DM ;
Scherer, S ;
Lynch, SA ;
Lindsay, S ;
Custard, E ;
Belloni, E ;
Wilson, DI ;
Wadey, R ;
Goodman, F ;
Orstavik, KH ;
Monclair, T ;
Robson, S ;
Reardon, W ;
Burn, J ;
Scambler, P ;
Strachan, T .
NATURE GENETICS, 1998, 20 (04) :358-361
[29]   Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication [J].
Treacy, EP ;
Akerman, BR ;
Chow, LML ;
Youil, R ;
Bibeau, C ;
Lin, J ;
Bruce, AG ;
Knight, M ;
Danks, DM ;
Cashman, JR ;
Forrest, SM .
HUMAN MOLECULAR GENETICS, 1998, 7 (05) :839-845
[30]   Human breath odors and their use in diagnosis [J].
Whittle, Chris L. ;
Fakharzadeh, Steven ;
Eades, Jason ;
Preti, George .
ORAL-BASED DIAGNOSTICS, 2007, 1098 :252-266