title: A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.
abstract: Molecular alterations of the GLI2 gene in 2q14.2 are associated with features from the holoprosencephaly spectrum. However, the phenotype is extremely variable, ranging from unaffected mutation heterozygotes to isolated or combined pituitary hormone deficiency, and to patients with a phenotype that overlaps with holoprosencephaly, including abnormal pituitary gland formation/function, craniofacial dysmorphisms, branchial arch anomalies, and polydactyly. Although many point mutations within the GLI2 gene have been identified, large (sub) microscopic deletions affecting 2q14.2 are rare. We report on a family with a 4.3 Mb deletion in 2q14 affecting GLI2 without any dysmorphologic features belonging to the holoprosencephaly spectrum. This family confirms the incomplete penetrance of genomic disturbances affecting the GLI2 gene. However, the family presented here is unique as none of the three identified individuals with a GLI2 deletion showed any typical signs of holoprosencephaly, whereas all patients reported so far were referred for genetic testing because at least one member exhibited holoprosencephaly and related features.
authors.affiliation: Praxis für Humangenetik, Greifswald, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Kordaß
authors.forename: Carmen
authors.initials: C
authors.lastname: Schröder
authors.forename: Miriam
authors.initials: M
authors.lastname: Elbracht
authors.forename: Lukas
authors.initials: L
authors.lastname: Soellner
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
mesh_terms: D000328:Adult; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D056726:Genetic Association Studies; D006579:Heterozygote; D016142:Holoprosencephaly / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D000075746:Zinc Finger Protein Gli2
chemical_list: C082593:GLI2 protein, human; D051741:Kruppel-Like Transcription Factors; D009687:Nuclear Proteins; D000075746:Zinc Finger Protein Gli2
keywords: GLI2  gene; chromosome 2q14.2; growth retardation; holoprosencephaly; microdeletion