A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.

ABSTRACT:

Background

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth restrictions, microcephaly, skeletal dysplasia, severe teeth deformities, and typical facial features. Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene.

Methods

We evaluated the clinical features of a 10-year and 7-month-old Chinese girl with MOPD II. Subsequently, next-generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively.

Results

The patient presented with short stature, microcephaly, typical craniofacial features, teeth deformity, thrombocytosis, and a delayed b

SUBMITTER: Liu H 

PROVIDER: S-EPMC8457697 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature