Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
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DOI：
10.1186/2051-5960-2-69
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发表时间：
2014-07-25
影响因子：
7.1
通讯作者：
Bahi-Buisson N
中科院分区：
文献类型：
--
作者：
Fallet-Bianco C;Laquerrière A;Poirier K;Razavi F;Guimiot F;Dias P;Loeuillet L;Lascelles K;Beldjord C;Carion N;Toussaint A;Revencu N;Addor MC;Lhermitte B;Gonzales M;Martinovich J;Bessieres B;Marcy-Bonnière M;Jossic F;Marcorelles P;Loget P;Chelly J;Bahi-Buisson N
与微管蛋白基因突变相关的复杂皮质畸形通常被称为“微管蛋白病”。为了进一步描述与微管蛋白突变相关的突变频率和表型，我们研究了60例胎儿病例。共发现26种微管蛋白突变，其中TUBA 1A突变最常见（19例），其次是TUBB 2B（6例）和TUBB 3（1例）。三种亚型明显出现。最常见的（n = 13）是小无脑畸形伴胼胝体发育不全，脑干和小脑严重发育不良。皮质板缺失（6/13），2-3层模式（5/13）或不太频繁增厚（2/13），通常与神经胶质细胞过度迁移相关（4/13）。所有病例均有大量的生发带和神经节隆起。第二种亚型为无脑畸形（n = 7），典型（4/7）或伴有小脑发育不全（3/7）伴胼胝体发育不全（6/7）。所有无脑回畸形和小脑发育不全的胎儿均携带明显的TUBA 1A突变，而经典无脑回畸形的胎儿在TUBA 1A（3例）或TUBB 2B（1例）中携带复发突变。第三组为多小脑回样皮质发育不良（n = 6），包括不对称性多灶性或全身性多小脑回伴胼胝体发育不全（4/6）和脑干和小脑发育不全（3/6）。多小脑回为单层或4层，伴神经元异位（5/6）和偶见局灶性神经胶质细胞过度迁移（2/6）。其中3例为TUBA 1A突变，3例为TUBB 2B突变。胎儿TUBA 1A微管蛋白病最常见于小无脑畸形或经典无脑畸形伴胼胝体发育不全，但也可能发生多小脑回。相反，TUBB 2B突变导致多小脑回（4/6）或小无脑回（2/6）。本文的在线版本（doi：10.1186/2051-5960-2-69）包含补充材料，可供授权用户使用。
Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). The online version of this article (doi:10.1186/2051-5960-2-69) contains supplementary material, which is available to authorized users.
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DOI：
10.1097/01.jnen.0000182978.56612.41
发表时间：
2005-10-01
影响因子：
3.2
作者：
Forman, MS;Squier, W;Golden, JA
通讯作者：
Golden, JA
影响因子：
7.1
作者：
Cohen-Sacher, B.;Lerman-Sagie, T.;Malinger, G.
通讯作者：
Malinger, G.
DOI：
10.1093/brain/aws019
发表时间：
2012-05
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Barkovich AJ;Guerrini R;Kuzniecky RI;Jackson GD;Dobyns WB
通讯作者：
Dobyns WB
DOI：
10.1002/ajmg.1320180320
发表时间：
1984-01-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
DOBYNS, WB;STRATTON, RF;GREENBERG, F
通讯作者：
GREENBERG, F
影响因子：
3.5
作者：
Cederquist, Gustav Y.;Luchniak, Anna;Engle, Elizabeth C.
通讯作者：
Engle, Elizabeth C.