Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
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DOI：
10.1038/ng.279
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发表时间：
2008-12
期刊：
影响因子：
30.8
通讯作者：
Patel, Ankita
中科院分区：
文献类型：
--
作者：
Brunetti-Pierri, Nicola;Berg, Jonathan S.;Scaglia, Fernando;Belmont, John;Bacino, Carlos A.;Sahoo, Trilochan;Lalani, Seema R.;Graham, Brett;Lee, Brendan;Shinawi, Marwan;Shen, Joseph;Kang, Sung-Hae L.;Pursley, Amber;Lotze, Timothy;Kennedy, Gail;Lansky-Shafer, Susan;Weaver, Christine;Roeder, Elizabeth R.;Grebe, Theresa A.;Arnold, Georgianne L.;Hutchison, Terry;Reimschisel, Tyler;Amato, Stephen;Geragthy, Michael T.;Innis, Jeffrey W.;Obersztyn, Ewa;Nowakowska, Beata;Rosengren, Sally S.;Bader, Patricia I.;Grange, Dorothy K.;Naqvi, Sayed;Garnica, Adolfo D.;Bernes, Saunder M.;Fong, Chin-To;Summers, Anne;Walters, W. David;Lupski, James R.;Stankiewicz, Pawel;Cheung, Sau Wai;Patel, Ankita
染色体区域 1q21.1 包含广泛且复杂的低拷贝重复序列，最近报道该区域的拷贝数变异 (CNV) 与先天性心脏病、发育迟缓、精神分裂症和相关精神病有关。我们描述了 21 名具有 1q21.1 微缺失的先证者和 15 名具有 1q21.1 微重复的先证者。在可获得父母研究的大多数病例中，这些 CNV 都是遗传的。分别在具有微缺失和微重复的个体中发现了一致且具有统计显着性的小头畸形和大头畸形特征。值得注意的是，在智人进化过程中，位于 16q22.2 并与常染色体隐性遗传性脑积水有关的 HYDIN 基因的旁系同源物被插入到 1q21.1 区域；我们发现这个基因座在我们研究的个体中被删除或重复，使其成为观察到的头部尺寸异常的可能候选者。我们认为，1q21.1 内反复出现的微缺失和微重复代表了以前未知的基因组疾病，其特征是头部尺寸异常以及一系列发育迟缓、神经精神异常、畸形特征和先天性异常。这些表型受到不完全外显率和可变表达性的影响。
Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 probands with the 1q21.1 microduplication. These CNVs were inherited in most of the cases in which parental studies were available. Consistent and statistically significant features of microcephaly and macrocephaly were found in individuals with micro-deletion and microduplication, respectively. Notably, a paralog of the HYDIN gene located on 16q22.2 and implicated in autosomal recessive hydrocephalus was inserted into the 1q21.1 region during the evolution of Homo sapiens; we found this locus to be deleted or duplicated in the individuals we studied, making it a probable candidate for the head size abnormalities observed. We propose that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies. These phenotypes are subject to incomplete penetrance and variable expressivity.
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影响因子：
30.8
作者：
Sharp, Andrew J.;Mefford, Heather C.;Eichler, Evan E.
通讯作者：
Eichler, Evan E.
DOI：
10.1002/ajmg.1320430311
发表时间：
1992-06-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
FUJIWARA, M;YOSHIMOTO, T;KAMADA, M
通讯作者：
KAMADA, M
影响因子：
8.8
作者：
Cheung, SW;Shaw, CA;Beaudet, AL
通讯作者：
Beaudet, AL
影响因子：
30.8
作者：
Sharp, Andrew J.;Hansen, Sierra;Eichler, Evan E.
通讯作者：
Eichler, Evan E.
影响因子：
64.8
作者：
Stone, Jennifer L.;O'Donovan, Michael C.;Gurling, Hugh;Kirov, George K.;Blackwood, Douglas H. R.;Corvin, Aiden;Craddock, Nick J.;Gill, Michael;Hultman, Christina M.;Lichtenstein, Paul;McQuillin, Andrew;Pato, Carlos N.;Ruderfer, Douglas M.;Owen, Michael J.;St Clair, David;Sullivan, Patrick F.;Sklar, Pamela;Purcell, Shaun M.;Scolnick, E. M.;Holmans, P. A.;Georgieva, L.;Nikolov, I.;Norton, N.;Williams, H.;Williams, N. M.;Toncheva, D.;Milanova, V.;Thelander, E. F.;Morris, D. W.;O'Dushlaine, C. T.;Kenny, E.;Waddington, J. L.;Choudhury, K.;Datta, S.;Pimm, J.;Thirumalai, S.;Puri, V.;Krasucki, R.;Lawrence, J.;Quested, D.;Bass, N.;Curtis, D.;Crombie, C.;Fraser, G.;Kwan, S. L.;Muir, W. J.;McGhee, K. A.;Pickard, B.;Malloy, P.;Maclean, A. W.;Van Beck, M.;Visscher, P. M.;Macgregor, S.;Pato, M. T.;Medeiros, H.;Middleton, F.;Carvalho, C.;Morley, C.;Fanous, A.;Conti, D.;Knowles, J. A.;Ferreira, C. P.;Azevedo, M. H.;McCarroll, S. A.;Gates, C.;Daly, M. J.;Sklar, P.
通讯作者：
Sklar, P.