A Novel 2q14.1q14.3 Deletion Involving GLI2 and RNU4ATAC Genes Associated with Partial Corpus Callosum Agenesis and Severe Intrauterine Growth Retardation

作者：Goumy Carole^*; Gay Bellile Mathilde; Salaun Gaelle; Kemeny Stephan; Eymard Pierre Eleonore; Biard Marie; Pebrel Richard Celine; Vanlieferinghen Philippe; Francannet Christine; Tchirkov Andrei; Laurichesse Helene; Rouzade Charles; Gouas Laetitia; Vago Philippe

来源：Birth Defects Research Part A: Clinical and Molecular Teratology , 2016, 106(9): 793-797.

DOI：10.1002/bdra.23535

• 2q14 deletion
• agenesis of corpus callosum
• intrauterine growth retardation
• RNU4ATAC
• GLI2

Background: Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare. To date, eight reports of relatively large deletions of this region (similar to 20 Mb) but only two small deletions (<6 Mb) have been reported. These deletions can cause a variable phenotype depending on the size and location of the deletion. Cognitive disability, facial dysmorphism, and postnatal growth retardation are the most common phenotypic features. Case: We report on a novel 5.8 Mb deletion of 2q14.1q14.3 identified by array comparative genomic hybridization in a fetus with severe intrauterine growth retardation and partial agenesis of the corpus callosum. The deletion contained 24 coding genes including STEAP3, GLI2, and RNU4ATAC and was inherited from the mild affected mother. A sibling developmental delay and similar dysmorphic facial features was found to have inherited the same deletion. Conclusion: This case emphasizes the variable expressivity of the 2q14 microdeletion and reinforces the hypothesis that agenesis of corpus callosum, microcephaly, developmental delay, and distinctive craniofacial features may be part of the phenotypic spectrum characterizing the affected patients. We suggest that GLI2 is a dosage-sensitive gene that may be responsible for the agenesis of corpus callosum observed in the proband.

• 出版日期2016-9