A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant.

ABSTRACT:

Context

Despite considerable progress in elucidating the molecular basis of various progeroid syndromes, some rare patients remain unexplained.

Objective

To elucidate molecular genetic basis of a novel autosomal recessive progeroid syndrome.

Participants

A 24-year-old male and his 18-year-old sister with short stature, mandibular hypoplasia, pointed nose, shrill voice, severe osteoporosis, and short eyebrows and their unaffected siblings and parents belonging to a consanguineous Arab family.

Results

Using exome and Sanger sequencing, we report a novel homozygous p.Glu394Lys disease-causing variant in proline-rich transmembrane protein 3 (PRRT3). PRRT3 belongs to the family of proline-rich proteins containing several repeats of a short proline-rich sequen

SUBMITTER: Garg A 

PROVIDER: S-EPMC7417871 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature