Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?

Child's Nervous System

Volumn 30, Issue 3, 2014, Pages 419-424

  Kutuk, Mehmet Serdar ^a   Balta, Burhan ^a   Kodera, Hirofumi ^b   Matsumoto, Naomichi ^b   Saitsu, Hirotomo ^b   Doganay, Selim ^a   Canpolat, Mehmet ^a   Dolanbay, Mehmet ^a   Unal, Ekrem ^a   Dundar, Munis ^a  

^a ERCIYES UNIVERSITY   (Turkey)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Antenatal; COL4A1; COL4A2; Fetal; Intracranial hemorrhage; Intraventricular hemorrhage; Mutation; Ultrasonography

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4A1; COLLAGEN TYPE 4A2; UNCLASSIFIED DRUG;

ABDOMINAL INJURY; ARTICLE; BRAIN HEMORRHAGE; BRAIN VENTRICLE DILATATION; CASE REPORT; CHOROID PLEXUS; CLINICAL FEATURE; CYTOMEGALOVIRUS INFECTION; ERYTHEMA INFECTIOSUM; EXOME; FETUS; FETUS DISEASE; FETUS ECHOGRAPHY; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GESTATIONAL AGE; HUMAN; HYDROCEPHALUS; NEONATAL ALLOIMMUNE THROMBOCYTOPENIA; NERVOUS SYSTEM DEVELOPMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PRENATAL DRUG EXPOSURE; PRENATAL PERIOD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; RUBELLA; TOXOPLASMOSIS;

ADULT; CEREBRAL VENTRICLES; COLLAGEN TYPE IV; DEVELOPMENTAL DISABILITIES; DNA; EXOME; FEMALE; FETUS; HUMANS; HYDROCEPHALUS; INTRACRANIAL HEMORRHAGES; MALE; MUTATION; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS;

EID: 84903365120     PISSN: 02567040     EISSN: 14330350     Source Type: Journal    
DOI: 10.1007/s00381-013-2338-7     Document Type: Article

References (23)

1. Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P (2009) Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 73:1873-1882
2. Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM (2006) Novel mutations in three families confirmamajor role of COL4A1 in hereditary porencephaly. J Med Genet 43:490-495 (Pubitemid 43927322)
3. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498
4. de Vries LS, Mancini GM (2012) Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood. Ann Neurol 71:439-441
5. Elchalal U, Yagel S, Gomori JM, Porat S, Beni-Adani L, Yanai N, Nadjari M (2005) Fetal intracranial hemorrhage (fetal stroke): does grade matter? Ultrasound Obstet Gynecol 26:233-243 (Pubitemid 41545820)
6. Garel C, Rosenblatt J, Moutard ML, Heron D, Gelot A, Gonzales M, Miné E, Jouannic JM (2013) Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty. Ultrasound Obstet Gynecol 41:228-230
7. Ghi T, Simonazzi G, Perolo A, Savelli L, Sandri F, Bernardi B, Santini D, Bovicelli L, Pilu G (2003) Outcome of antenatally diagnosed intracranial hemorrhage: case series and review of the literature. Ultrasound Obstet Gynecol 22:121-130 (Pubitemid 36976376)
8. Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 308:1167-1771
9. Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB (2012) COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet 13(90):91-101
10. Kutuk MS, Yikilmaz A, Ozgun MT, Dolanbay M, Canpolat M, Uludag S, Uysal G, Tas M, Musa K (2013) Prenatal diagnosis and postnatal outcome of fetal intracranial hemorrhage. Childs Nerv Syst. doi:10.1007/s00381-013-2243-0
11. Lichtenbelt KD, Pistorius LR, De Tollenaer SM, Mancini GM, De Vries LS (2012) Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage. Ultrasound Obstet Gynecol 39:726-727
12. Lynch JK, Hirtz DG, DeVeber G, Nelson KB (2002) Report of the National Institute of Neurological Disorders and Stroke workshop on perinatal and childhood stroke. Pediatrics 109: 116-123 (Pubitemid 34049435)
13. Plaisier E, Alamowitch S, Gribouval O, Mougenot B, Gaudric A, Antignac, Roullet E, Ronco P (2005) Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome. Kidney Int 67:2354-2360 (Pubitemid 41623397)
14. Pöschl E, Schlötzer-Schrehardt U, Brachvogel B, Saito K, Ninomiya Y, Mayer U (2004) Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development. Development 131:1619-1628 (Pubitemid 38559288)
15. Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, KatoM,Mizushima N,Matsumoto N (2013) De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 45:445-449
16. Urabe N, Naito I, Saito K, Yonezawa T, Sado Y, Yoshioka H, Kusachi S, Tsuji T, Ohtsuka A, Taguchi T, Murakami T, Ninomiya Y (2002) Basement membrane type IV collagen molecules in the choroid plexus, pia mater and capillaries in the mouse brain. Arch Histol Cytol 65:133-143 (Pubitemid 34857549)
17. Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG (2007) Clinical and brain MRI follow-up study of a family with COL4A1 mutation. Neurology 69:1564-15688
18. Van Agtmael T, Bruckner-Tuderman L (2010) Basement membranes and human disease. Cell Tissue Res 339:167-188
19. Van der Knaap MS, Smit LM, Barkhof F, Pijnenburg YA, Zweegman S, Niessen HW, Imhof S, Heutink P (2006) Neonatal porencephaly and adult stroke related to mutations in collagen IVA1. Ann Neurol 59:504-511 (Pubitemid 43358071)
20. Vergani P, Strobelt N, Locatelli A, Paterlini G, Tagliabue P, Parravicini E, Ghidini A (1996) Clinical significance of fetal intracranial hemorrhage. Am J Obstet Gynecol 175:536-543
21. Vermeulen RJ, Peeters-Scholte C, Van Vugt JJ, Barkhof F, Rizzu P, van der Schoor SR, van der Knaap MS (2011) Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI. Neuropediatrics 42:1-3
22. Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164
23. Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H (2012) De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. Am J Hum Genet 90:86-90