Hospital of Rehabilitation of Craniofacial Anomalies, USP, Bauru, SP, Brazil.
Clin Genet. 2012 Jan;81(1):70-5. doi: 10.1111/j.1399-0004.2010.01606.x. Epub 2011 Jan 19.
Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like (HPE-L) phenotypes and postaxial polydactyly. Subsequently, anophthalmia plus orbital anomalies, heminasal aplasia, branchial arch anomalies and polydactyly have also been incorporated into the general phenotype. Here we described six Brazilian patients with phenotypic manifestations that range from isolated cleft lip/palate with polydactyly, branchial arch anomalies to semi-lobar holoprosencephaly. Novel sequence variants were found in the GLI2 gene in patients with marked involvement of the temporomandibular joint (TMJ), a new clinical finding observed with mutations of this gene. Clinical, molecular and genetic aspects are discussed.
人类 GLI2 基因突变首先与前脑垂体形成缺陷、全垂体功能减退和前脑异常相关联，表现为典型的无脑回畸形（HPE）和无脑回畸形样（HPE-L）表型以及后轴多指（趾）畸形。随后，无眼症加眼眶异常、半侧鼻发育不全、鳃弓异常和多指（趾）畸形也被纳入一般表型。在这里，我们描述了 6 名巴西患者，他们的表型表现从单纯的唇裂/腭裂伴多指（趾）、鳃弓异常到半侧脑回畸形。在颞下颌关节（TMJ）严重受累的患者中发现了 GLI2 基因的新序列变异，这是该基因突变的一个新的临床发现。讨论了临床、分子和遗传方面的问题。
