Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.

ABSTRACT:

Introduction

Hypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.

Methods

There were 30 suspected HPP patients recruited from different Italian tertiary cares. Biological samples and related clinical, biochemical, and anamnestic data were collected and the ALPL gene sequenced. Search for large genomic deletions at the ALPL locus (1p36) was done. Phylogenetic conservation and modeling were applied to infer the effect of the variants on the protein structure.

Results

There were 21 ALPL variants and one large genomic deletion found in 20 out of 30 patients. Unexpectedly, NGS-driven differential diagnosis allowed uncovering three hidden

SUBMITTER: Cinque L 

PROVIDER: S-EPMC10433156 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature