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A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant
- Source :
- Journal of the Endocrine Society
- Publication Year :
- 2020
- Publisher :
- The Endocrine Society, 2020.
-
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 sequence, but its function remains to be determined. Preliminary observations showing colocalization of Prrt3 and synaptophysin support its role in vesicle exocytosis. Consistent with the highest messenger ribonucleic acid expression of PRRT3 in the pituitary, both the patients had mild growth hormone deficiency but had near normal reproductive development. Conclusions We conclude that the homozygous p.Glu394Lys variant in PRRT3 may be associated with a novel autosomal recessive, progeroid syndrome with short stature, mandibular hypoplasia, osteoporosis, short eyebrows, and mild growth hormone (GH) deficiency. Our findings extend the spectrum of progeroid syndromes and elucidate important functions of PRRT3 in human biology, including secretion of GH from the pituitary.
- Subjects :
- mandibular hypoplasia
growth hormone deficiency
0301 basic medicine
medicine.medical_specialty
Endocrinology, Diabetes and Metabolism
Context (language use)
Biology
Short stature
Progeroid syndromes
Growth hormone deficiency
03 medical and health sciences
symbols.namesake
0302 clinical medicine
Internal medicine
medicine
progeroid syndrome
Exome
Clinical Research Articles
Sanger sequencing
medicine.disease
Hypoplasia
short stature
030104 developmental biology
Endocrinology
symbols
Synaptophysin
biology.protein
PRRT3
medicine.symptom
AcademicSubjects/MED00250
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 24721972
- Volume :
- 4
- Database :
- OpenAIRE
- Journal :
- Journal of the Endocrine Society
- Accession number :
- edsair.doi.dedup.....2bdd35312e190d723b8fe56db8e266dd