RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.

ABSTRACT:

Background

Skeletal dysplasia is a heterogeneous group of disorders resulting from different genetic variants in humans. The current study was designed to identify the genetic causes of skeletal dysplasia and short stature in two consanguineous families from Pakistan, both comprised of multiple affected individuals. Patients in one family had proportionate short stature with reduced head circumference while affected individuals in the other family had disproportionate short stature.

Methods

Clinical data were obtained and radiological examinations of the index patients were completed. Whole genome sequencing for probands from both families were performed followed by Sanger sequencing to confirm segregation of identified variants in the respective families. In-silico pathogen

SUBMITTER: Ain NU 

PROVIDER: S-EPMC8293541 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature