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A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2015 May; Vol. 167A (5), pp. 1121-4. Date of Electronic Publication: 2015 Mar 28. - Publication Year :
- 2015
-
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.<br /> (© 2015 Wiley Periodicals, Inc.)
- Subjects :
- Adult
Chromosomes, Human, Pair 2 genetics
Female
Gene Deletion
Heterozygote
Holoprosencephaly etiology
Holoprosencephaly physiopathology
Humans
Male
Mutation
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Zinc Finger Protein Gli2
Genetic Association Studies
Holoprosencephaly genetics
Kruppel-Like Transcription Factors genetics
Nuclear Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 167A
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 25820550
- Full Text :
- https://doi.org/10.1002/ajmg.a.36972