Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.
Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.
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DOI：
10.1002/ajmg.a.36548
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发表时间：
2014-08
影响因子：
2
通讯作者：
Xu, Dongbin
中科院分区：
文献类型：
--
作者：
Hudson, Cindy;Schwanke, Corbin;Johnson, John P.;Elias, Abdallah F.;Phillips, Sandy;Schwalbe, Tammy;Tunby, Mary;Xu, Dongbin
心面外综合征（ACFS）是一种罕见的疾病，主要是基于临床表现的出现，包括指外畸形、心脏缺陷、唇腭裂、耳畸形、面部畸形和智力残疾。过去，常染色体隐性遗传被认为是通过观察父母的血缘关系和少数家庭中受影响的兄弟姐妹[Guion-Almeida等，2000；Mingarelli et al., 2005；Digilio and Dallapiccola, 2010]。最近，Toschi等人[2012]提出，ACFS可能是一种新的微缺失综合征，基于在受影响儿童中发现的6q21-22.3微阵列缺失。作者回顾了6q区域染色体缺失的报告病例，发现异常的临床谱与ACFS一致[Toschi et al., 2012]。然而，大多数回顾的病例与报告的6q21-22.3缺失没有重叠或只有很少重叠。唯一一个有显著重叠的案例涉及一个超过两倍大的缺失。在这里，我们报告了一个临床表现与ACFS一致的婴儿，发现有6q21q22的间质缺失。1在染色体微阵列上包含一个与先前报道的6q21-22.3缺失非常相似的片段。正如我们在报告中所描述的，ACFS具有连续基因缺失综合征的许多临床和分子特征，证实了6q21-22.3微缺失可能是导致这种疾病的一种机制。
Acro-cardio-facial syndrome (ACFS) is a rare condition that has primarily been diagnosed based on presence of a constellation of clinical findings including ectrodactyly, heart defects, cleft lip and palate, ear anomalies, dysmorphic facial features, and intellectual disability. In the past, autosomal recessive inheritance has been suggested following observation of parental consanguinity and affected siblings in few families [Guion-Almeida et al., 2000; Mingarelli et al., 2005; Digilio and Dallapiccola, 2010]. More recently Toschi et al.[2012] proposed that ACFS may be a new microdeletion syndrome based on a 6q21–22.3 microarray deletion identified in an affected child. The authors reviewed reported cases of chromosome deletions in the 6q region, and found the clinical spectrum of anomalies consistent with ACFS [Toschi et al., 2012]. However, most of the reviewed cases shared either no or only little overlap with their reported 6q21–22.3 deletion. The only case with significant overlap involved a deletion that was more than twice as large.Here we report on an infant with a clinical presentation consistent with ACFS found to have an interstitial deletion of 6q21q22. 1 on chromosomal microarray encompassing a segment very similar to the previously reported 6q21–22.3 deletion. As delineated in our report ACFS shares many of the clinical and molecular characteristics of a contiguous gene deletion syndrome, confirming the possibility that 6q21–22.3 microdeletion is a mechanism causing this disorder.
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