Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

被引:104
作者
Robin, Nathaniel H.
Taylor, Clare J.
McDonald-McGinn, Donna M.
Zackai, Elaine H.
Bingham, Peter
Collins, Kevin J.
Earl, Dawn
Gill, Deepak
Granata, Tiziana
Guerrini, Renzo
Katz, Naomi
Kimonis, Virginia
Lin, Jean-Pierre
Lynch, David R.
Mohammed, Shehla N.
Massey, Roger F.
McDonald, Marie
Rogers, R. Curtis
Splitt, Miranda
Stevens, Cathy A.
Tischkowitz, Marc D.
Stoodley, Neil
Leventer, Richard J.
Pilz, Daniela T.
Dobyns, William B.
机构
[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[2] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA
[3] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA
[4] Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA
[5] Univ Alabama Birmingham, Dept Pediat, Birmingham, AL USA
[6] Univ Hosp Wales, Inst Med Genet, Cardiff, Wales
[7] Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
[8] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA
[9] Univ Vermont, Coll Med, Dept Neurol, Burlington, VT USA
[10] Univ Vermont, Coll Med, Dept Pediat, Burlington, VT USA
[11] Univ Melbourne, Dept Neurol, Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia
[12] Childrens Hosp & Reg Med Ctr, Div Med Genet & Dev Med, Seattle, WA USA
[13] Childrens Hosp Westmead, TY Nelson Dept Neurol, Sydney, NSW, Australia
[14] Ist Nazl Neurol Carlo Besta, Div Child Neurol, Milan, Italy
[15] Univ Pisa, Div Child Neurol & Psychiat, Pisa, Italy
[16] IRCCS, Fdn Stella Maris, Pisa, Italy
[17] Childrens Hosp, Div Genet & Metab, Boston, MA 02115 USA
[18] Harvard Univ, Sch Med, Boston, MA 02115 USA
[19] Evelina Childrens Hosp, Dept Paediat Neurol, Guys & St Thomas Hosp NHS Fdn Trust, London, England
[20] Guys Hosp, SE Thames Reg Genet Serv, London SE1 9RT, England
[21] Hull Royal Infirm, Dept Paediat, Kingston Upon Hull HU3 2JZ, N Humberside, England
[22] Duke Univ, Med Ctr, Div Med Genet, Durham, NC USA
[23] Greenwood Genet Ctr, Greenwood, SC 29646 USA
[24] Univ Tennessee, Dept Pediat, Chattanooga Unit, Coll Med, Chattanooga, TN USA
[25] TC Thompson Childrens Hosp, Chattanooga, TN USA
[26] Inst Child Hlth, Clin Genet Unit, London, England
[27] Frenchay Hosp, Dept Neuroradiol, Bristol BS16 1LE, Avon, England
关键词
cerebellar hypoplasia; chromosome; 22; deletion; 22q11.2; perisylvian polymicrogyria;
D O I
10.1002/ajmg.a.31443
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported most frequently. In view of our interest in the causes of PMG, we reviewed clinical data including brain-imaging studies on 21 patients with PMG associated with deletion 22q11.2 and another 11 from the literature. We found that the cortical malformation consists of perisylvian PMG of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (P=0.008). This and other observations suggest that the PMG may be a sequela of abnormal embryonic vascular development rather than a primary brain malformation. We also noted mild cerebellar hypoplasia or mega-cisterna magna in 8 of 24 patients. Although this was not the focus of the present Study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11. (c) 2006 Wiley-Liss, Inc.
引用
收藏
页码:2416 / 2425
页数:10
相关论文
共 92 条
  • [11] Polymicrogyria in chromosome 22 deletion syndrome
    Bingham, PM
    Lynch, D
    McDonald-McGinn, D
    Zackai, E
    [J]. NEUROLOGY, 1998, 51 (05) : 1500 - 1502
  • [12] Bingham PM, 1997, AM J MED GENET, V74, P538, DOI 10.1002/(SICI)1096-8628(19970919)74:5<538::AID-AJMG17>3.0.CO
  • [13] 2-D
  • [14] Cortical dysgenesis in 2 patients with chromosome 22q11 deletion
    Bird, LM
    Scambler, P
    [J]. CLINICAL GENETICS, 2000, 58 (01) : 64 - 68
  • [15] Bilateral perisylvian polymicrogyria in three generations
    Borgatti, R
    Triulzi, F
    Zucca, C
    Piccinelli, P
    Balottin, U
    Carrozzo, R
    Guerrini, R
    [J]. NEUROLOGY, 1999, 52 (09) : 1910 - 1913
  • [16] Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
    Brooks, AS
    Bertoli-Avella, AM
    Burzynski, GM
    Breedveld, GJ
    Osinga, J
    Boven, LG
    Hurst, JA
    Mancini, GMS
    Lequin, MH
    de Coo, RF
    Matera, I
    de Graaff, E
    Meijers, C
    Willems, PJ
    Tibboel, D
    Oostra, BA
    Hofstra, RMW
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (01) : 120 - 126
  • [17] IDENTIFICATION OF A PATIENT WITH BERNARD-SOULIER SYNDROME AND A DELETION IN THE DIGEORGE/VELO-CARDIO-FACIAL CHROMOSOMAL REGION IN 22Q11.2
    BUDARF, ML
    KONKLE, BA
    LUDLOW, LB
    MICHAUD, D
    LI, MG
    YAMASHIRO, DJ
    MCDONALDMCGINN, D
    ZACKAI, EH
    DRISCOLL, DA
    [J]. HUMAN MOLECULAR GENETICS, 1995, 4 (04) : 763 - 766
  • [18] CALLIER P, 2005, AM SOC HUM GEN 55 AN
  • [19] Focal polymicrogyria in mother and son
    Caraballo, RH
    Cersósimo, RO
    Mazza, E
    Fejerman, N
    [J]. BRAIN & DEVELOPMENT, 2000, 22 (05) : 336 - 339
  • [20] Bilateral generalized polymicrogyria (BGP) - A distinct syndrome of cortical malformation
    Chang, BS
    Piao, X
    Giannini, C
    Cascino, GD
    Scheffer, I
    Woods, CG
    Topcu, M
    Tezcan, K
    Bodell, A
    Leventer, RJ
    Barkovich, AJ
    Grant, PE
    Walsh, CA
    [J]. NEUROLOGY, 2004, 62 (10) : 1722 - 1728