Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
复制标题
DOI：
10.1186/1750-1172-6-12
复制
发表时间：
2011-04-01
影响因子：
3.7
通讯作者：
Gimelli G
中科院分区：
文献类型：
--
作者：
Cuoco C;Ronchetto P;Gimelli S;Béna F;Divizia MT;Lerone M;Mirabelli-Badenier M;Mascaretti M;Gimelli G
3号染色体短臂远端部分的末端缺失导致一种罕见的连续基因疾病，其特征为生长迟缓、发育迟缓、智力迟钝、畸形、小头畸形和上睑下垂。缺失个体的表型从正常到严重不等。提示包括CRBN和CNTN 4两个基因的1.5 Mb最小末端缺失足以引起该综合征。此外，CHL 1基因定位在CRBN和CNTN 4远端的3p26.3，由于其在脑中的高水平表达，被认为是非特异性精神发育迟滞的候选基因。我们描述了两个受影响的兄弟姐妹，其中阵列CGH分析揭示了一个相同的不连续的末端3p26.3缺失，跨度小于1 Mb。这种缺失是从他们的正常父亲那里遗传来的，只包括CHL 1基因。两兄弟目前小头畸形，轻度精神发育迟滞，学习和语言困难，但不是典型的表型表现所描述的3 p-综合征。仅包括CHL 1基因的末端3p26.3缺失是非常罕见的发现，以前仅在一个家族中报道。两个家族中受影响个体的表型非常相似，缺失是从一个明显正常的亲本遗传的。正如已经描述的其他具有可变表型的复发性综合征，这些发现在遗传咨询中具有挑战性，因为明显的可变突变率。
terminal deletions of the distal portion of the short arm of chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation, developmental delay, mental retardation, dysmorphisms, microcephaly and ptosis. The phenotype of individuals with deletions varies from normal to severe. It was suggested that a 1,5 Mb minimal terminal deletion including the two genes CRBN and CNTN4 is sufficient to cause the syndrome. In addition the CHL1 gene, mapping at 3p26.3 distally to CRBN and CNTN4, was proposed as candidate gene for a non specific mental retardation because of its high level of expression in the brain. we describe two affected siblings in which array-CGH analysis disclosed an identical discontinuous terminal 3p26.3 deletion spanning less than 1 Mb. The deletion was transmitted from their normal father and included only the CHL1 gene. The two brothers present microcephaly, light mental retardation, learning and language difficulties but not the typical phenotype manifestations described in 3p- syndrome. a terminal 3p26.3 deletion including only the CHL1 gene is a very rare finding previously reported only in one family. The phenotype of the affected individuals in the two families is very similar and the deletion has been inherited from an apparently normal parent. As already described for others recurrent syndromes with variable phenotype, these findings are challenging in genetic counselling because of an evident variable penetrance.
登录
查看更多内容
影响因子：
9.8
作者：
Klopocki, Eva;Schulze, Harald;Mundlos, Stefan
通讯作者：
Mundlos, Stefan
影响因子：
5.3
作者：
Wei, MH;Karavanova, I;Lerman, MI
通讯作者：
Lerman, MI
DOI：
10.1056/nejmoa0805384
发表时间：
2008-10-16
期刊：
The New England journal of medicine
影响因子：
--
作者：
Mefford HC;Sharp AJ;Baker C;Itsara A;Jiang Z;Buysse K;Huang S;Maloney VK;Crolla JA;Baralle D;Collins A;Mercer C;Norga K;de Ravel T;Devriendt K;Bongers EM;de Leeuw N;Reardon W;Gimelli S;Bena F;Hennekam RC;Male A;Gaunt L;Clayton-Smith J;Simonic I;Park SM;Mehta SG;Nik-Zainal S;Woods CG;Firth HV;Parkin G;Fichera M;Reitano S;Lo Giudice M;Li KE;Casuga I;Broomer A;Conrad B;Schwerzmann M;Räber L;Gallati S;Striano P;Coppola A;Tolmie JL;Tobias ES;Lilley C;Armengol L;Spysschaert Y;Verloo P;De Coene A;Goossens L;Mortier G;Speleman F;van Binsbergen E;Nelen MR;Hochstenbach R;Poot M;Gallagher L;Gill M;McClellan J;King MC;Regan R;Skinner C;Stevenson RE;Antonarakis SE;Chen C;Estivill X;Menten B;Gimelli G;Gribble S;Schwartz S;Sutcliffe JS;Walsh T;Knight SJ;Sebat J;Romano C;Schwartz CE;Veltman JA;de Vries BB;Vermeesch JR;Barber JC;Willatt L;Tassabehji M;Eichler EE
通讯作者：
Eichler EE
影响因子：
4
作者：
Hannes FD;Sharp AJ;Mefford HC;de Ravel T;Ruivenkamp CA;Breuning MH;Fryns JP;Devriendt K;Van Buggenhout G;Vogels A;Stewart H;Hennekam RC;Cooper GM;Regan R;Knight SJ;Eichler EE;Vermeesch JR
通讯作者：
Vermeesch JR
DOI：
10.1002/ajmg.10323
发表时间：
2002-04-22
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Cargile, CB;Goh, DLM;Thomas, GH
通讯作者：
Thomas, GH