%0 Journal Article %A Y., Niida %A M., Inoue %A M., Ozaki %A E., Takase %D 2018 %T Supplementary Material for: Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model %U https://karger.figshare.com/articles/journal_contribution/Supplementary_Material_for_Human_Malformation_Syndromes_of_Defective_GLI_Opposite_Phenotypes_of_2q14_2_GLI2_and_7p14_2_GLI3_Microdeletions_and_a_GLIA_R_Balance_Model/5752965 %R 10.6084/m9.figshare.5752965.v1 %2 https://karger.figshare.com/ndownloader/files/10132416 %K Contiguous gene deletion syndrome %K Culler-Jones syndrome %K GLI family zinc finger protein %K Grey cephalopolysyndactyly syndrome %K Pallister-Hall syndrome %K SNP array %K Sonic hedgehog pathway %X

GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14.2) and GLI3 (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual/social disability caused by a 6.6-Mb deletion of 2q14.1q14.3. Patient 2 is a 2-year-old girl with Greig cephalopolysyndactyly contiguous gene deletion syndrome. She manifested macrocephaly, preaxial polysyndactyly, psychomotor developmental delay, cerebral cavernous malformations, and glucose intolerance due to a 6.2-Mb deletion of 7p14.1p12.3 which included GLI3, GCK, and CCM2. Each patient manifests a different phenotype which is associated with different functions of each GLI gene and different effects of the chromosomal contiguous gene deletion. We summarize the phenotypic extent of GLI2/3 syndromes in the literature and determine that these 2 syndromes manifest opposite features to a certain extent, such as midface hypoplasia or macrocephaly, and anterior or posterior side of polydactyly. We propose a GLIA/R balance model that may explain these findings.

%I Karger Publishers