Cardiovascular Department, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Medical Genetics Service, Hospital "Cardinale G. Panico", Tricase, Lecce, Italy.
Mol Genet Genomic Med. 2019 Sep;7(9):e855. doi: 10.1002/mgg3.855. Epub 2019 Jul 25.
The deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations.
We describe a 6-year-old child with a 12-Mb deletion of the region 7q35q36.3.
Among the deleted genes, two genes have cardiac implications: PRKAG2 (OMIM #602743), associated with hypertrophic cardiomyopathy, cardiac conduction disease, and sudden death, and KCNH2 (OMIM #152427), coding for a cardiac potassium channel involved in long QT syndrome, unmasked by the chlorpheniramine treatment. At same time, the SHH gene (OMIM #600725), encoding sonic hedgehog, a secreted protein that is involved in the embryonic development, is deleted.
Our report underlines potential cardiac complications linked to the common pharmacological treatment in this rare multiorgan and proteiform disease.
远端 7q 缺失是一种罕见的染色体综合征，其特征为表型广泛，包括生长和精神运动迟缓、面部畸形和泌尿生殖系统畸形。
我们描述了一例 6 岁儿童患有 7q35q36.3 区域 12-Mb 的缺失。
在所缺失的基因中，有两个基因与心脏有关：PRKAG2（OMIM #602743），与肥厚型心肌病、心脏传导疾病和猝死有关，以及编码心脏钾通道的 KCNH2（OMIM #152427），该通道参与长 QT 综合征，氯苯那敏治疗可使其显现。同时，缺失了编码 sonic hedgehog 的 SHH 基因（OMIM #600725），sonic hedgehog 是一种参与胚胎发育的分泌蛋白。
我们的报告强调了这种罕见的多器官和多形态疾病中常见的药物治疗可能引起的心脏并发症。
