Phenotypic spectrum of COL4A1 mutations: Porencephaly to schizencephaly

Annals of Neurology

Volumn 73, Issue 1, 2013, Pages 48-57

  Yoneda, Yuriko ^a   Haginoya, Kazuhiro ^b,c   Kato, Mitsuhiro ^d   Osaka, Hitoshi ^e   Yokochi, Kenji ^f   Arai, Hiroshi ^g   Kakita, Akiyoshi ^h   Yamamoto, Takamichi ⁱ   Otsuki, Yoshiro ⁱ   Shimizu, Shin Ichi ⁱ   Wada, Takahito ^e   Koyama, Norihisa ^j   Mino, Yoichi ^k   Kondo, Noriko ^k   Takahashi, Satoru ^l   Hirabayashi, Shinichi ^m   Takanashi, Jun Ichi ⁿ   Okumura, Akihisa ^o   Kumagai, Toshiyuki ^p   Hirai, Satori ^g   Nabetani, Makoto ^q   Saitoh, Shinji ^r   Hattori, Ayako ^r   Yamasaki, Mami ^s   Kumakura, Akira ^t   Sugo, Yoshinobu ^a   Nishiyama, Kiyomi ^a   Miyatake, Satoko ^a   Tsurusaki, Yoshinori ^a   Doi, Hiroshi ^a   Miyake, Noriko ^a   Matsumoto, Naomichi ^a   Saitsu, Hirotomo ^a   more..

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Takuto Rehabilitation Center for Children   (Japan)

^d YAMAGATA UNIVERSITY   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^f SEIREI MIKATAHARA GENERAL HOSPITAL   (Japan)

^g OSAKA UNIVERSITY   (Japan)

^h NIIGATA UNIVERSITY   (Japan)

ⁱ SEIREI HAMAMATSU GENERAL HOSPITAL   (Japan)

^j TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

^k TOTTORI UNIVERSITY   (Japan)

^l ASAHIKAWA MEDICAL COLLEGE   (Japan)

^m NAGANO CHILDREN'S HOSPITAL   (Japan)

ⁿ KAMEDA MEDICAL CENTER   (Japan)

^o JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^p Aichi Welfare Center for Persons with Developmental Disabilities   (Japan)

^q YODOGAWA CHRISTIAN HOSPITAL   (Japan)

^r NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^s Takatsuki   (Japan)

^t Kitano Hospital   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4A1; CREATINE KINASE; MESSENGER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; ASYMPTOMATIC DISEASE; BRAIN CALCIFICATION; BRAIN DEGENERATION; CHILD; CHILDHOOD DISEASE; CORTICAL DYSPLASIA; CREATINE KINASE BLOOD LEVEL; EYE MALFORMATION; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HEMOLYTIC ANEMIA; HUMAN; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYOPATHY; NONSENSE MUTATION; PARENT; PHENOTYPE; PORENCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHIZENCEPHALY; SCHOOL CHILD;

ANEMIA, HEMOLYTIC; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; HEMIPLEGIA; HUMANS; INFANT; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; PHENOTYPE;

EID: 84873331236     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23736     Document Type: Article

References (30)

1. Khoshnoodi J, Pedchenko V, Hudson BG,. Mammalian collagen IV. Microsc Res Tech 2008; 71: 357-370.
2. Gould DB, Phalan FC, Breedveld GJ, et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005; 308: 1167-1171.
3. Breedveld G, de Coo IF, Lequin MH, et al. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 2006; 43: 490-495.
4. Yoneda Y, Haginoya K, Arai H, et al. De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. Am J Hum Genet 2012; 90: 86-90.
5. Vahedi K, Alamowitch S,. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 2011; 24: 63-68.
6. Lanfranconi S, Markus HS,. COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke 2010; 41: e513-e518.
7. van der Knaap MS, Smit LM, Barkhof F, et al. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol 2006; 59: 504-511.
8. Meuwissen ME, de Vries LS, Verbeek HA, et al. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology 2011; 76: 844-846.
9. Livingston J, Doherty D, Orcesi S, et al. COL4A1 Mutations associated with a characteristic pattern of intracranial calcification. Neuropediatrics 2011; 42: 227-233.
10. Plaisier E, Gribouval O, Alamowitch S, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 2007; 357: 2687-2695.
11. Alamowitch S, Plaisier E, Favrole P, et al. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 2009; 73: 1873-1882.
12. Coutts SB, Matysiak-Scholze U, Kohlhase J, Innes AM,. Intracerebral hemorrhage in a young man. CMAJ 2011; 183: E61-E64.
13. Sibon I, Coupry I, Menegon P, et al. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol 2007; 62: 177-184.
14. Weng YC, Sonni A, Labelle-Dumais C, et al. COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. Ann Neurol 2012; 71: 470-477.
15. Labelle-Dumais C, Dilworth DJ, Harrington EP, et al. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet 2011; 7: e1002062.
16. Friede R,. Porencephaly, hydranencephaly, multicystic encephalopathy. In: Developmental neuropathology. 2nd ed. Berlin, Germany: Springer-Verlag, 1989: 28-43.
17. Govaert P,. Prenatal stroke. Semin Fetal Neonatal Med 2009; 14: 250-266.
18. Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012; 135: 1348-1369.
19. Yakovlev PI, Wadsworth RC,. Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with fused lips. J Neuropathol Exp Neurol 1946; 5: 116-130.
20. Barkovich AJ, Kjos BO,. Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol 1992; 13: 85-94.
21. Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008; 40: 782-788.
22. Saitsu H, Kato M, Okada I, et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 2010; 51: 2397-2405.
23. Lichtenbelt KD, Pistorius LR, De Tollenaer SM, et al. Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage. Ultrasound Obstet Gynecol 2012; 39: 726-727.
24. de Vries LS, Koopman C, Groenendaal F, et al. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann Neurol 2009; 65: 12-18.
25. Engel J, Prockop DJ,. The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. Annu Rev Biophys Biophys Chem 1991; 20: 137-152.
26. Nagy E, Maquat LE,. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998; 23: 198-199.
27. Strauss KA, Puffenberger EG, Huentelman MJ, et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 2006; 354: 1370-1377.
28. Favor J, Gloeckner CJ, Janik D, et al. Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles. Genetics 2007; 175: 725-736.
29. Van Agtmael T, Bailey MA, Schlotzer-Schrehardt U, et al. Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. Hum Mol Genet 2010; 19: 1119-1128.
30. Janowska-Wieczorek A, Marquez LA, Nabholtz JM, et al. Growth factors and cytokines upregulate gelatinase expression in bone marrow CD34(+) cells and their transmigration through reconstituted basement membrane. Blood 1999; 93: 3379-3390