Ectodermal Dysplasia-Like Syndrome With Mental Retardation Due To Contiguous Gene Deletion: Further Clinical and Molecular Delineation of del[2q32] Syndrome
Ectodermal Dysplasia-Like Syndrome With Mental Retardation Due To Contiguous Gene Deletion: Further Clinical and Molecular Delineation of del[2q32] Syndrome
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DOI：
10.1002/ajmg.a.33164
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发表时间：
2010-01-01
影响因子：
2
通讯作者：
Aboura, Azzedine
中科院分区：
文献类型：
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作者：
Rifai, Laila;Port-Lis, Marylin;Aboura, Azzedine
我们报告一个病人与间质缺失的长臂2号染色体2q31.2q33.2。她有产前和产后生长迟缓、小头畸形、面部畸形、腭裂、弯曲趾、双侧马蹄内翻足、严重智力残疾和外胚层异常。她的皮肤薄而萎缩，头发稀疏、脆弱、生长缓慢，牙齿形状异常的少齿畸形，正常出汗，指甲正常，符合外胚层发育不良的诊断。阵列CGH分析（Agilent 44 K（R））显示在细胞遗传学条带2q31.2和2 q33之间的缺失跨越26 Mb。该缺失导致HOXD簇的半合子性，其调控元件COL 3A 1/COL 5A 2、GTF 3C 3、CASP 8、CASP 10和SABT 2可能干扰DLX 1和DLX 2表达的远程控制。这个女孩证实了临床上可识别的2 q32微缺失综合征的存在，正如最近货车布根胡特等人所描述的那样，并证实了染色体2 q31 q33上外胚层发育不良的一个新的假定位点。我们建议考虑对发育障碍和外胚层发育不良样表型的患者进行del（2 q32）的细胞遗传学和/或分子筛查，包括皮肤薄、牙齿发育不良和毛发稀疏。(C)2009 Wiley-Liss，Inc.
We report on a patient with an interstitial deletion of the long arm of chromosome 2 at 2q31.2q33.2. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectodermal anomalies. She showed thin, atrophic skin, sparse, brittle, slowly growing hair, oligodontia with abnormally shaped teeth, normal sweating, and normal fingernails, consistent with a diagnosis of ectodermal dysplasia. Array CGH analysis (Agilent 44K (R)) showed the deletion to span 26 Mb, between cytogenetic bands 2q31.2 and 2q33. The deletion leads to hemizygosity for the HOXD cluster and its regulatory elements, COL3A1/COL5A2, GTF3C3, CASP8, CASP10, and SABT2 could perhaps interfere with long range control of DLX1 and DLX2 expression. This girl confirms the existence of a clinically recognizable 2q32 microdeletion syndrome, as recently delineated by Van Buggenhout et al. and confirms a novel putative locus for ectodermal dysplasia on chromosome 2q31q33. We recommend considering cytogenetic and/or molecular screening for del(2q32) in patients with developmental disability and ectodermal dysplasia-like phenotype, including thin skin, oligodontia, dysplastic teeth, and sparse hair. (C) 2009 Wiley-Liss, Inc.