8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature |
| |
Authors: | Orazio Palumbo Pietro Palumbo Raffaella Stallone Teresa Palladino Leopoldo Zelante Massimo Carella |
| |
Institution: | 1. Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy;2. Department of Biology, University of Bari, Bari, Italy |
| |
Abstract: | CHARGE syndrome is an autosomal dominant inherited disorder characterized by a specific and recognizable pattern of anomalies. De novo mutations or deletions of the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. In this report, we describe a patient with a typical phenotype characterized by psychomotor retardation, hypertrichosis, facial asymmetry, synophria, failure to thrive, developmental delay and gastro-esophageal reflux, carrying a de novo 6.04 Mb interstitial deletion in 8q12.1q12.3 detected by single nucleotide polymorphism (SNP) array analysis. Despite the deletion includes CHD7 and although the patient shares some of the clinical features of the CHARGE syndrome, she does not fulfill the clinical criteria for this syndrome. To the best of our knowledge, this is the second case with an entire deletion of the CHD7 gene not leading to CHARGE syndrome and, for this reason, useful to expand and further delineate the clinical features associated with the 8q12.1q12.3 deletion. Furthermore, the literature review revealed that the phenotype secondary to duplications of the same region partially overlaps with the phenotype reported in this study. Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient, are discussed in context of the clinical features. |
| |
Keywords: | CHD7 chromodomain helicase DNA binding protein 7 CHARGE ocular coloboma heart disease choanal atresia retarded growth and/or anomalies of the central nervous system genito-urinary defects and/or hypogonadism and ear anomalies and/or deafness N-SMase neutral sphingomyelinase NSMAF activation associated factor TOX thymocyte selection-associated high mobility group box CA8 carbonic anhydrase VIII CLVS1 clavesin 1 |
本文献已被 ScienceDirect 等数据库收录! |
|