Vaisfeld Alessandro, Pomponi Maria Grazia, Pietrobono Roberta, Tabolacci Elisabetta, Neri Giovanni
Istituto di Medicina Genomica, Università Cattolica del S. Cuore, Rome, Italy.
Am J Med Genet A. 2017 Jan;173(1):285-288. doi: 10.1002/ajmg.a.38003. Epub 2016 Oct 14.
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. Conversely, there is little information regarding affected females, with very few reported cases, and a clinical definition of this phenotype is still lacking. In the present report we describe an additional case, the first to receive a primary molecular diagnosis based on strong clinical suspicion. Possible explanations for full clinical expression of X-linked recessive conditions in females include several mechanisms, such as skewed X inactivation or homozygosity/compound heterozygosity of the causal mutation. Both of these were excluded in our case. Given that the possibility of full expression of SGBS in females is now firmly established, we recommend that GPC3 analysis be performed in all suggestive female cases. © 2016 Wiley Periodicals, Inc.
辛普森-戈拉比-贝梅尔综合征是一种X连锁隐性过度生长疾病，由GPC3基因改变引起，该基因编码细胞表面受体磷脂酰肌醇蛋白聚糖3，其在受影响男性中的临床表现已为人熟知。相反，关于受影响女性的信息很少，报告的病例极少，且该表型的临床定义仍然缺乏。在本报告中，我们描述了另外一例病例，这是首例基于强烈临床怀疑而获得初步分子诊断的病例。女性中X连锁隐性疾病出现完全临床表型的可能解释包括几种机制，如X染色体失活偏斜或致病突变的纯合性/复合杂合性。在我们的病例中排除了这两种情况。鉴于现在已确定女性中SGBS完全表达的可能性，我们建议对所有疑似女性病例进行GPC3分析。© 2016威利期刊公司
