Bertini Veronica, Orsini Alessandro, Mazza Roberta, Mandava Vineela, Saggese Giuseppe, Azzara' Alessia, Bonuccelli Alice, Valetto Angelo
Unita' di Genetica Medica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.
Sezione di Neurologia Pediatrica, A.O.U. Pisana, Ospedale S.Chiara, Pisa, Italy.
Am J Med Genet A. 2017 Jan;173(1):280-284. doi: 10.1002/ajmg.a.38002. Epub 2016 Oct 18.
We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy-Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molecular mapping of WS in 3q23q25 allowed geneticists to define the syndrome more accurately. Comparing the present patient's phenotype with that of cases with a molecular characterization so far reported, it was possible to narrow the critical region for WS to an interval of 750 Kb, where two genes (MBNL1 and TMEM14E) are harbored. The potential role of MBNL1 in causing the WS phenotype is discussed. © 2016 Wiley Periodicals, Inc.
我们报告了一名通过比较基因组杂交芯片检测出3q24q25区域存在6.5Mb间质性新生缺失的患者。该患者为一名4岁2个月大的女孩，表现为轻度发育迟缓、无语言能力、面部畸形、多毛症、斜视和Dandy-Walker畸形。患者具有典型的威斯康星综合征（WS）主要临床体征。3q23q25区域WS的分子定位使遗传学家能够更准确地定义该综合征。将本患者的表型与迄今报道的具有分子特征的病例进行比较，有可能将WS的关键区域缩小至750Kb区间，该区间包含两个基因（MBNL1和TMEM14E）。文中讨论了MBNL1在导致WS表型中的潜在作用。©2016威利期刊公司
