Rare copy number variants identified in prune belly syndrome.
Rare copy number variants identified in prune belly syndrome.
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DOI：
10.1016/j.ejmg.2017.11.008
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发表时间：
2018-03
影响因子：
1.9
通讯作者：
Mills JL
中科院分区：
文献类型：
--
作者：
Boghossian NS;Sicko RJ;Giannakou A;Dimopoulos A;Caggana M;Tsai MY;Yeung EH;Pankratz N;Cole BR;Romitti PA;Browne ML;Fan R;Liu A;Kay DM;Mills JL
梅干腹综合征 (PBS)，也称为 Eagle-Barrett 综合征，是一种罕见的先天性疾病，其特征是男性腹壁肌肉组织缺失或发育不全、尿路异常和隐睾。 PBS 的病因很大程度上尚未解决，但考虑到其在家庭中复发，遗传因素与此有关。我们检查了 PBS 病例，以确定新的致病性拷贝数变异 (CNV)。使用 Illumina HumanOmni2.5 微阵列对纽约州 (1998-2005) 的所有活产婴儿中鉴定出的 34 例 PBS 病例（30 名男性和 4 名女性）进行了基因分型。如果内部对照中不存在CNV，包含≥10个连续探针，大小≥20 Kb，与群体参考对照中的常见变异重叠≤20%，并且与先前在我们实验室筛查的其他出生缺陷表型中检测到的任何变异重叠≤20%，则优先考虑CNV。我们鉴定了 17 个候选常染色体 CNV； 10例各有1个CNV，4例各有2个CNV。 CNV 在 4q22 处包含 158 Kb 的重复，与 BMPR1B 基因重叠；两例STIM1基因内含子携带不同大小的重复； NOG 基因下游 202 Kb 的 67 Kb 重复，以及包括 MYOCD 基因在内的 1.34 Mb 缺失。鉴定出的罕见 CNV 跨越了涉及中胚层、肌肉和尿路发育和分化的基因，这可能有助于阐明 PBS 的遗传贡献。我们没有父母 DNA，无法确定这些 CNV 是新生的还是遗传的。有必要对这些 CNV，特别是 BMP 信号传导进行进一步研究，以阐明 PBS 的发病机制。
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but genetic factors are implicated given its recurrence in families. We examined cases of PBS to identify novel pathogenic copy number variants (CNVs). A total of 34 cases (30 males and 4 females) with PBS identified from all live births in New York State (1998–2005) were genotyped using Illumina HumanOmni2.5 microarrays. CNVs were prioritized if they were absent from in-house controls, encompassed ≥10 consecutive probes, were ≥20 Kb in size, had ≤20% overlap with common variants in population reference controls, and had ≤20% overlap with any variant previously detected in other birth defect phenotypes screened in our laboratory. We identified 17 candidate autosomal CNVs; 10 cases each had one CNV and four cases each had two CNVs. The CNVs included a 158 Kb duplication at 4q22 that overlaps the BMPR1B gene; duplications of different sizes carried by two cases in the intron of STIM1 gene; a 67 Kb duplication 202 Kb downstream of the NOG gene, and a 1.34 Mb deletion including the MYOCD gene. The identified rare CNVs spanned genes involved in mesodermal, muscle, and urinary tract development and differentiation, which might help in elucidating the genetic contribution to PBS. We did not have parental DNA and cannot identify whether these CNVs were de novo or inherited. Further research on these CNVs, particularly BMP signaling is warranted to elucidate the pathogenesis of PBS.
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影响因子：
4.6
作者：
Costamagna D;Mommaerts H;Sampaolesi M;Tylzanowski P
通讯作者：
Tylzanowski P
GUDMAP数据库 - 用于泌尿生殖器研究的在线资源。
DOI：
10.1242/dev.063594
发表时间：
2011-07
期刊：
Development (Cambridge, England)
影响因子：
--
作者：
Harding SD;Armit C;Armstrong J;Brennan J;Cheng Y;Haggarty B;Houghton D;Lloyd-MacGilp S;Pi X;Roochun Y;Sharghi M;Tindal C;McMahon AP;Gottesman B;Little MH;Georgas K;Aronow BJ;Potter SS;Brunskill EW;Southard-Smith EM;Mendelsohn C;Baldock RA;Davies JA;Davidson D
通讯作者：
Davidson D
DOI：
10.1016/j.gep.2009.04.002
发表时间：
2009-06
期刊：
Gene expression patterns : GEP
影响因子：
--
作者：
Danesh SM;Villasenor A;Chong D;Soukup C;Cleaver O
通讯作者：
Cleaver O
影响因子：
7
作者：
Harrow J;Frankish A;Gonzalez JM;Tapanari E;Diekhans M;Kokocinski F;Aken BL;Barrell D;Zadissa A;Searle S;Barnes I;Bignell A;Boychenko V;Hunt T;Kay M;Mukherjee G;Rajan J;Despacio-Reyes G;Saunders G;Steward C;Harte R;Lin M;Howald C;Tanzer A;Derrien T;Chrast J;Walters N;Balasubramanian S;Pei B;Tress M;Rodriguez JM;Ezkurdia I;van Baren J;Brent M;Haussler D;Kellis M;Valencia A;Reymond A;Gerstein M;Guigó R;Hubbard TJ
通讯作者：
Hubbard TJ
影响因子：
4.9
作者：
Kiviluoto S;Decuypere JP;De Smedt H;Missiaen L;Parys JB;Bultynck G
通讯作者：
Bultynck G