Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients.
Mol Cell Endocrinol
; 544: 111489, 2022 03 15.
Article
in En
| MEDLINE
| ID: mdl-34653508
ABSTRACT
We investigated the distribution of short stature-associated mutations in Korean pediatric patients with idiopathic short stature (ISS) and isolated growth hormone deficiency (IGHD) via targeted next-generation sequencing (TNGS). We employed a 96-gene TNGS panel for short stature in a total of 144 patients (5-19 years-old) previously diagnosed with ISS or IGHD and identified heterozygous pathogenic or likely pathogenic genetic variants in 14 (10%) patients. Of the mutated genes, PROKR2 (n = 3) is associated with gonadotropin-releasing hormone deficiency or hypopituitarism, while FGFR1 (n = 1) and NPR2 (n = 3) encode growth plate paracrine factors. FBN1 (n = 1), COL9A1 (n = 1), MATN3 (n = 1), and ACAN (n = 3) regulate the cartilage extracellular matrix, while PTPN11 (n = 1) controls intracellular pathways. Six patients had IGHD, and eight patients had ISS. The current findings highlight the utility of TNGS for determining the genetic etiology in these patients.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Human Growth Hormone
/
Dwarfism, Pituitary
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
Mol Cell Endocrinol
Year:
2022
Document type:
Article
Affiliation country: