Prenatal diagnosis of microvillus inclusion disease

Taiwanese Journal of Obstetrics and Gynecology

Volumn 50, Issue 3, 2011, Pages 399-400

  Chen, Chih Ping ^a,b,c,d   Su, Yi Ning ^e   Chern, Schu Rern ^a   Wu, Pei Chen ^a   Wang, Wayseen ^a,f  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^f TATUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN;

ADULT; AMNIOCENTESIS; AMNION CELL; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENTEROPATHY; FEMALE; FETUS; GESTATIONAL AGE; HUMAN; KARYOTYPING; MICROVILLUS INCLUSION DISEASE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PROTEIN BLOOD LEVEL;

AMNIOCENTESIS; FATAL OUTCOME; FEMALE; HUMANS; INCLUSION BODIES; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALABSORPTION SYNDROMES; MICROVILLI; MUCOLIPIDOSES; MYOSIN HEAVY CHAINS; MYOSIN TYPE V; PREGNANCY; PRENATAL DIAGNOSIS; YOUNG ADULT;

EID: 82455192388     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2011.06.001     Document Type: Article

References (8)

1. Chen C.-P., Chiang M.-C., Wang T.-H., Hsueh C., Chang S.-D., Tsai F.-J., et al. Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. Taiwan J Obstet Gynecol 2010, 49:487-494.
2. Müller T., Hess M.W., Schiefermeier N., Pfaller K., Ebner H.L., Heinz-Erian P., et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet 2008, 40:1163-1165.
3. Rodriguez O.C., Cheney R.E. Human myosin-Vc is a novel class V myosin expressed in epithelial cells. J Cell Sci 2002, 115:991-1004.
4. Erickson R.P., Larson-Thome K., Valenzuela R.K., Whitaker S.E., Shub M.D. Navajo microvillous inclusion disease is due to a mutation in MYO5B. Am J Med Genet 2008, 146A:3117-3119.
5. Ruemmele F.M., Müller T., Schiefermeier N., Ebner H.L., Lechner S., Pfaller K., et al. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Hum Mutat 2010, 31:544-551.
6. Szperl A.M., Golachowska M.R., Bruinenberg M., Prekeris R., Thunnissen A.M., Karrenbeld A., et al. Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. J Pediatr Gastroenterol Nutr 2011, 52:307-313.
7. Ruemmele F.M., Schmitz J., Goulet O. Microvillous inclusion disease (microvillous atrophy). Orphanet J Rare Dis 2006, 1:22.
8. Kennea N., Norbury R., Anderson G., Tekay A. Congenital microvillous inclusion disease presenting as antenatal bowel obstruction. Ultrasound Obstet Gynecol 2001, 17:172-174.