De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Human Genetics

Volumn 133, Issue 6, 2014, Pages 737-742

  Thorson, Willa ^a   Diaz Horta, Oscar ^a   Foster, Joseph ^a   Spiliopoulos, Michail ^a   Quintero, Rubén ^b   Farooq, Amjad ^a   Blanton, Susan ^a   Tekin, Mustafa ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b JACKSON MEMORIAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA 2 SMOOTH MUSCLE ACTIN; SMOOTH MUSCLE ACTIN; UNCLASSIFIED DRUG;

ACTG2 GENE; ACTIN FILAMENT; ACTIN POLYMERIZATION; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLADDER; BLADDER CATHETERIZATION; BLADDER DISTENSION; CASE REPORT; CHILD; COLON MALFORMATION; CONTROLLED STUDY; CYSTOSTOMY; END STAGE LIVER DISEASE; EXOME; FEMALE; FETUS; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; HYDRONEPHROSIS; HYDROURETER; INFANT; INTESTINE; INTESTINE BIOPSY; INTESTINE FUNCTION DISORDER; INTESTINE MALROTATION; LAPAROTOMY; MALE; MOLECULAR MODEL; MOUSE; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; OLIGOHYDRAMNIOS; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SMOOTH MUSCLE CONTRACTILITY; SYNDROME MMIH; THIN FILAMENT; TOTAL PARENTERAL NUTRITION;

MURINAE;

ABNORMALITIES, MULTIPLE; ACTINS; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COLON; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENES, RECESSIVE; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; MALE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCLE, SMOOTH; MUTATION; PEDIGREE; URINARY BLADDER;

EID: 84901192619     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1406-0     Document Type: Article

References (20)

1. Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C (1976) Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. AJR 126(5):957-964. doi: 10.2214/ajr.126.5.957
2. Campeau E, Ruhl VE, Rodier F, Smith CL, Rahmberg BL, Fuss JO, Campisi J, Yaswen P, Cooper PK, Kaufman PD (2009) A versatile viral system for expression and depletion of proteins in mammalian cells. PLoS One 4(8):e6529. doi: 10.1371/journal.pone.0006529
3. Carson M (1991) Ribbons 2 0. J Appl Crystallogr 24:958-961. doi: 10.1107/S0021889891007240
4. Ciftci AO, Cook RC, van Velzen D (1996) Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis. J Pediatr Surg 31(12):1706-1711
5. Diaz-Horta O, Duman D, Foster J 2nd, Sirmaci A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Zuchner S, Blanton S, Tekin M (2012) Whole-exome sequencing efficiently detects rare mutations in autosomal recessive non-syndromic hearing loss. PLoS One 7(11):e50628. doi: 10.1371/journal.pone.0050628
6. Dominguez R, Holmes KC (2011) Actin structure and function. Ann Rev Biophys 40:169-186. doi: 10.1146/annurev-biophys-042910-155359
7. Freedman AL, Johnson MP, Gonzalez R (2000) Fetal therapy for obstructive uropathy: past, present, future? Pediatr Nephrol 14(2):167-176
8. Garrett Q, Khaw PT, Blalock TD, Schultz GS, Grotendorst GR, Daniels JT (2004) Involvement of CTGF in TGF-beta1-stimulation of myofibroblast differentiation and collagen matrix contraction in the presence of mechanical stress. Invest Ophthalmol Vis Sci 45(4):1109-1116
9. Gonzalez MA, Lebrigio RF, Van Booven D, Ulloa RH, Powell E, Speziani F, Tekin M, Schule R, Zuchner S (2013) GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat 34(6):842-846. doi: 10.1002/humu.22305
10. Grinnell F, Ho CH (2002) Transforming growth factor beta stimulates fibroblast-collagen matrix contraction by different mechanisms in mechanically loaded and unloaded matrices. Exp Cell Res 273(2):248-255. doi: 10.1006/excr.2001.5445
11. Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jarvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S (2012) Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy. Gastroenterology 143 (6):1482-1491 e1483. doi: 10.1053/j.gastro.2012. 08.045
12. Marti-Renom MA, Stuart AC, Fiser A, Sanchez R, Melo F, Sali A (2000) Comparative protein structure modeling of genes and genomes. Ann Rev Biophys Biomol Struct 29:291-325. doi: 10.1146/annurev.biophys.29.1.291
13. Mc Laughlin D, Puri P (2013) Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int. doi: 10.1007/s00383-013-3357-x
14. Meuwissen ME, Lequin MH, Bindels-de Heus K, Bruggenwirth HT, Knapen MF, Dalinghaus M, de Coo R, van Bever Y, Winkelman BH, Mancini GM (2013) ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. Am J Med Genet Part A 161(6):1376-1380. doi: 10.1002/ajmg.a.35858
15. Milewicz DM, Ostergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Ades L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES (2010) De novo ACTA2 mutation causes a novel syndrome of multi-systemic smooth muscle dysfunction. Am J Med Genet Part A 152A(10):2437-2443. doi: 10.1002/ajmg.a.33657
16. Otterbein LR, Graceffa P, Dominguez R (2001) The crystal structure of uncomplexed actin in the ADP state. Science 293(5530):708-711. doi: 10.1126/science.1059700
17. Piotrowska AP, Rolle U, Chertin B, De Caluwe D, Bianchi A, Puri P (2003) Alterations in smooth muscle contractile and cytoskeleton proteins and interstitial cells of Cajal in megacystis microcolon intestinal hypoperistalsis syndrome. J Pediatr Surg 38(5):749-755. doi: 10.1016/jpsu.2003.50159
18. Puri P, Shinkai M (2005) Megacystis microcolon intestinal hypoperistalsis syndrome. Semin Pediatr Surg 14(1):58-63
19. Steiner RD, Adsit J, Basel D (1993) COL1A1/2-Related Osteogenesis Imperfecta. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K (eds) GeneReviews. Seattle
20. Yiee J, Wilcox D (2008) Abnormalities of the fetal bladder. Semin Fetal Neonatal Med 13(3):164-170. doi: 10.1016/j.siny.2007.10.002