Dataset Information

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

ABSTRACT:

Context

Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which growth restriction is evident in utero and continues into postnatal life. Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental to cellular processes including centrosome functions.

Objective

The objective of the study was to find the genetic etiology of a novel presentation of MPD.

Design

The design of the study was whole-exome sequencing performed on two affected sisters in a single family. Molecular and functional studies of a candidate gene were performed using patient-derived primary fibroblasts and a zebrafish morpholino oligonucleotides knockdown model.