scholarly journals Greig Syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Greig Syndrome

scholarly journals Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

2020 ◽  
pp. jmedgenet-2020-106948
Author(s):  
Martijn Baas ◽  
Elise Bette Burger ◽  
Ans MW van den Ouweland ◽  
Steven ER Hovius ◽  
Annelies de Klein ◽  
...  
Keyword(s):  
Multivariate Analysis ◽  
Corpus Callosum ◽  
Latent Class Analysis ◽  
Family Member ◽  
Latent Class ◽  
Class Membership ◽  
Class Model ◽  
Limb Anomalies ◽  
Dna Variants ◽  
Greig Syndrome

IntroductionPathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entity, but the distinction between Greig syndrome and PPD4 is less evident. Using latent class analysis (LCA), our study aimed to investigate the correlation between reported limb anomalies and the reported GLI3 variants in these GLI3-mediated polydactyly syndromes. We identified two subclasses of limb anomalies that relate to the underlying variant.MethodsBoth local and published cases were included for analysis. The presence of individual limb phenotypes was dichotomised and an exploratory LCA was performed. Distribution of phenotypes and genotypes over the classes were explored and subsequently the key predictors of latent class membership were correlated to the different clustered genotypes.Results297 cases were identified with 127 different variants in the GLI3 gene. A two-class model was fitted revealing two subgroups of patients with anterior versus posterior anomalies. Posterior anomalies were observed in cases with truncating variants in the activator domain (postaxial polydactyly; hand, OR: 12.7; foot, OR: 33.9). Multivariate analysis supports these results (Beta: 1.467, p=0.013 and Beta: 2.548, p<0.001, respectively). Corpus callosum agenesis was significantly correlated to these variants (OR: 8.8, p<0.001).ConclusionThere are two distinct phenotypes within the GLI3-mediated polydactyly population: anteriorly and posteriorly orientated. Variants that likely produce haploinsufficiency are associated with anterior phenotypes. Posterior phenotypes are associated with truncating variants in the activator domain. Patients with these truncating variants have a greater risk for corpus callosum anomalies.

Phenotype of five patients with Greig syndrome and microdeletion of 7p13

2001 ◽  
Vol 102 (3) ◽  
pp. 243-249 ◽  
Author(s):  
Peter M. Kroisel ◽  
Erwin Petek ◽  
Klaus Wagner
Keyword(s):  
Greig Syndrome

scholarly journals Point Mutations in Human GLI3 Cause Greig Syndrome

1997 ◽  
Vol 6 (11) ◽  
pp. 1979-1984 ◽  
Author(s):  
A. Wild ◽  
M. Kalff-Suske ◽  
A. Vortkamp ◽  
D. Bornholdt ◽  
R. Konig ◽  
...  
Keyword(s):  
Point Mutations ◽  
Greig Syndrome

Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13

1991 ◽  
Vol 87 (4) ◽  
Author(s):  
AnjanaLal Pettigrew ◽  
Frank Greenberg ◽  
C.Thomas Caskey ◽  
DavidH. Ledbetter
Keyword(s):  
Interstitial Deletion ◽  
Greig Syndrome

Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13)

1989 ◽  
Vol 32 (3) ◽  
pp. 411-416 ◽  
Author(s):  
Gabriele Krüger ◽  
Jürgen Götz ◽  
Ulrich Kvist ◽  
Helmut Dunker ◽  
Fritz Erfurth ◽  
...  
Keyword(s):  
Chromosome Translocation ◽  
Greig Syndrome ◽  
Reciprocal Chromosome Translocation
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