A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.

ABSTRACT:

Background

Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from defects of peroxisomal metabolism whose clinical phenotype is characterized by rhizomelia, calcified foci in periarticular cartilage, coronal lesions of vertebral bodies, cataracts and severe cognitive delay. Usually, survival does not exceed the first decade of life. Transmission is autosomal recessive and is related to mutations in the PEX7, GNPAT or AGPS.

Methods

A detailed description of the prenatal ultrasound signs of RCDP found in two successive pregnancies in a consanguineous couple is reported. Molecular genetic investigations included the study of the coding regions and the exon-intron junctions of the GNPAT (high-throughput amplification and sequencing performed with Roche N

SUBMITTER: Cordisco A 

PROVIDER: S-EPMC8404227 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature