Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
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DOI：
10.1038/ejhg.2011.13
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发表时间：
2011-07
期刊：
影响因子：
--
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中科院分区：
文献类型：
--
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Greig头多并指综合征（GCPS）是一种多发性先天性畸形，其特征是肢体和颅面畸形，由GLI 3杂合突变或缺失引起。我们报告四个男孩和一个女孩谁提出了三角头由于间位骨结合，与前和后轴向多指和皮肤并指的手和脚。2例有额外的矢状骨结合。没有人有类似特征的家族史。在所有5名儿童中，GCPS的诊断均通过GLI 3的分子分析得到证实（2名具有基因内突变，3名具有在阵列比较基因组杂交上检测到的完全基因缺失），从而突出了三角头畸形或明显的额突或矢状骨结合作为GCPS的独特表现特征的重要性。这些观察结果证实并扩展了最近提出的基因内GLI 3突变与间位骨性结合的相关性;此外，GLI 3完全缺失的三个人以前被认为患有Carpenter综合征，突出了诊断混乱的重要来源。
Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who presented with trigonocephaly due to metopic synostosis, in association with pre- and post-axial polydactyly and cutaneous syndactyly of hands and feet. Two cases had additional sagittal synostosis. None had a family history of similar features. In all five children the diagnosis of GCPS was confirmed by molecular analysis of GLI3 (two had intragenic mutations and three had complete gene deletions detected on array comparative genomic hybridisation), thus highlighting the importance of trigonocephaly or overt metopic or sagittal synostosis as a distinct presenting feature of GCPS. These observations confirm and extend a recently proposed association of intragenic GLI3 mutations with metopic synostosis; moreover the three individuals with complete deletion of GLI3 were previously considered to have Carpenter syndrome, highlighting an important source of diagnostic confusion.
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影响因子：
3.9
作者：
Jenkins, Dagan;Baynam, Gareth;De Catte, Luc;Elcioglu, Nursel;Gabbett, Michael T.;Hudgins, Louanne;Hurst, Jane A.;Jehee, Fernanda Sarquis;Oley, Christine;Wilkie, Andrew O. M.
通讯作者：
Wilkie, Andrew O. M.
影响因子：
3.9
作者：
Johnston, Jennifer J.;Sapp, Julie C.;Turner, Joyce T.;Amor, David;Aftimos, Salim;Aleck, Kyrieckos A.;Bocian, Maureen;Bodurtha, Joann N.;Cox, Gerald F.;Curry, Cynthia J.;Day, Ruth;Donnai, Dian;Field, Michael;Fujiwara, Ikuma;Gabbett, Michael;Gal, Moran;Graham, John M., Jr.;Hedera, Peter;Hennekam, Raoul C. M.;Hersh, Joseph H.;Hopkin, Robert J.;Kayserili, Hulya;Kidd, Alexa M. J.;Kimonis, Virginia;Lin, Angela E.;Lynch, Sally Ann;Maisenbacher, Melissa;Mansour, Sahar;McGaughran, Julie;Mehta, Lakshmi;Murphy, Helen;Raygada, Margarita;Robin, Nathaniel H.;Rope, Alan F.;Rosenbaum, Kenneth N.;Schaefer, G. Bradley;Shealy, Amy;Smith, Wendy;Soller, Maria;Sommer, Annmarie;Stalker, Heather J.;Steiner, Bernhard;Stephan, Mark J.;Tilstra, David;Tomkins, Susan;Trapane, Pamela;Tsai, Anne Chun-Hui;Van Allen, Margot I.;Vasudevan, Pradeep C.;Zabel, Bernhard;Zunich, Janice;Black, Graeme C. M.;Biesecker, Leslie G.
通讯作者：
Biesecker, Leslie G.
DOI：
10.1002/ajmg.1320310412
发表时间：
1988-12-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
BRUETON, L;HUSON, SM;WILLIAMSON, R
通讯作者：
WILLIAMSON, R
影响因子：
4.4
作者：
DRABKIN, H;SAGE, M;TOMMERUP, N
通讯作者：
TOMMERUP, N
影响因子：
2
作者：
Johnston, JJ;Olivos-Glander, I;Biesecker, LG
通讯作者：
Biesecker, LG