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

ABSTRACT:

Introduction

Pathogenic 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.

Methods

Both local and published cases were included for analysis. The presence of individual limb phenotypes was dichotomised and an exploratory LCA was per

SUBMITTER: Baas M 

PROVIDER: S-EPMC8142428 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature