Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea

Clinical Dysmorphology

Volumn 19, Issue 1, 2010, Pages 48-

  Sivagnanam, Mamata ^a,c   Janecke, Andreas R ^d   Müller, Thomas ^d   Heinz Erian, Peter ^d   Taylor, Sharon ^a,c   Bird, Lynne M ^b,c  

^a Division of Pediatric Gastroenterology Hepatology and Nutrition   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c RADY CHILDREN'S HOSPITAL   (United States)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM;

CASE REPORT; CHILD; CONGENITAL SODIUM DIARRHEA; DIARRHEA; DNA SEQUENCE; DRY EYE; ENTEROPATHY; GENE; GENE MUTATION; HUMAN; INTRAHEPATIC CHOLESTASIS; LETTER; MALE; PRIORITY JOURNAL; SPINT2 GENE; TOTAL PARENTERAL NUTRITION; TUFTING ENTEROPATHY;

CHILD; CHOANAL ATRESIA; CORNEA; DIARRHEA; DNA MUTATIONAL ANALYSIS; EPITHELIUM; HAIR; HUMANS; INTESTINAL DISEASES; MALABSORPTION SYNDROMES; MALE; MEMBRANE GLYCOPROTEINS; SYNDROME;

EID: 74549221343     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328331de38     Document Type: Letter

References (5)

1. Bird LM, Sivagnanam M, Taylor S, Newbury RO (2007). A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. Clin Dysmorphol 16:211-221.
2. Heinz-Erian P, Mü ller T, Krabichler B, Schranz M, Becker C, Rü schendorf F, et al. (2009). Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet 84:188-196.
3. Mü ller T, Wijmenga C, Phillips AD, Janecke A, Houwen RH, Fischer H, et al. (2000). Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. Gastroenterology 119:1506-1513.
4. Mü ller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, et al. (2008). MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet 40:1163-1165.
5. Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, et al. (2008). Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology 135:429-437.