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

Abhimanyu Garg; Hatem El-Shanti; Chao Xing; Zhengyang Zhou; Mousa Abujbara; Khadeja Al-Rashed; Mohammed El-Khateeb; Kamel Ajlouni; Anil K. Agarwal

doi:10.1210/jendso/bvaa088

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

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

Abhimanyu Garg, Hatem El-Shanti, Chao Xing, Zhengyang Zhou, Mousa Abujbara, Khadeja Al-Rashed, Mohammed El-Khateeb, Kamel Ajlouni and Anil K. Agarwal

Journal of the Endocrine Society, Vol.4(8), pp.bvaa088-bvaa088

08/01/2020

DOI: 10.1210/jendso/bvaa088

PMCID: PMC7417871

PMID: 32803092

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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 diseasecausing variant in praline-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. (C) Endocrine Society 2020.

Endocrinology & Metabolism

Life Sciences & Biomedicine

Science & Technology

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Title: Subtitle: A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant
Creators: Abhimanyu Garg - Southwestern Medical Center
Hatem El-Shanti - University of Jordan
Chao Xing - Southwestern Medical Center
Zhengyang Zhou - University of North Texas Health Science Center
Mousa Abujbara - University of Jordan
Khadeja Al-Rashed - University of Jordan
Mohammed El-Khateeb - University of Jordan
Kamel Ajlouni - University of Jordan
Anil K. Agarwal - Southwestern Medical Center
Resource Type: Journal article
Publication Details: Journal of the Endocrine Society, Vol.4(8), pp.bvaa088-bvaa088
DOI: 10.1210/jendso/bvaa088
PMID: 32803092
PMCID: PMC7417871
NLM abbreviation: J Endocr Soc
ISSN: 2472-1972
eISSN: 2472-1972
Publisher: Endocrine Soc
Number of pages: 11
Grant note: R01-DK105448 / National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA Southwestern Medical Foundation
Language: English
Date published: 08/01/2020
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984354146702771

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