An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p
An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p
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DOI：
10.1002/ajmg.a.34222
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发表时间：
2012-02-01
影响因子：
2
通讯作者：
Sanlaville, Damien
中科院分区：
文献类型：
--
作者：
Boutry-Kryza, Nadia;Labalme, Audrey;Sanlaville, Damien
我们报告了一个7岁的中度智力残疾、身材矮小、轻度畸形和听力损失的儿童的临床和细胞遗传学研究。R-染色体显带显示，从头常染色体标记起源于17 p染色体片段在所有分析的细胞。应用阵列比较基因组杂交技术（aCGH）测定了小额外标记染色体（SMC）的基因含量及近端和远端断裂点。这些断裂点分别定位于17号染色体的着丝粒和17p11.2区域。出乎意料的是，aCGH分析还揭示了800 kb的从头缺失，包括17q23.2区域中的6个基因，包括MED 13（也称为THRAP 1）。我们将我们的患者与其他报道的SMC病例进行了比较（17），以确定重复和缺失对表型的各自贡献。我们不能完全排除SMC的次要作用（17），但我们认为MED 13单倍不足是患者表型的原因，特别是白内障、听力损失和半规管发育不良。此外，这份报告强调了aCGH的有用性，在异常的情况下，基因内容的规格，促进建立准确的表型基因型相关性和检测其他复杂的重排。(C)2011 Wiley Periodicals，Inc.
We report on clinical and cytogenetic studies in a 7-year-old child with moderate intellectual disability, short stature, mild dysmorphism, and hearing loss. R-chromosome banding showed a de novo autosomal marker originating from the 17p chromosome segment in all cells analyzed. Array comparative genome hybridization (aCGH) was used to determine the gene content and proximal and distal breakpoints of the small supernumerary marker chromosome (SMC). These breakpoints mapped to the centromere of chromosome 17 and the 17p11.2 region, respectively. Unexpectedly, aCGH analysis also revealed a de novo deletion of 800 kb encompassing six genes in the 17q23.2 region, including MED13 (also known as THRAP1). We compared our patient with other reported cases of SMC(17), to determine the respective contributions of the duplication and the deletion to the phenotype. We cannot entirely exclude a minor role for the SMC(17), but we suggest that MED13 haploinsufficiency was responsible for the phenotype of the patient particularly the cataract, hearing loss and semicircular canal dysplasia. Moreover, this report highlights the usefulness of aCGH for the specification of gene content in cases of abnormality, facilitating the establishment of accurate phenotypegenotype correlations and the detection of other, complex rearrangements. (C) 2011 Wiley Periodicals, Inc.