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Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients

Authors
 Jungmin Ahn  ;  Jiyoung Oh  ;  Junghwan Suh  ;  Kyungchul Song  ;  Ahreum Kwon  ;  Hyun Wook Chae  ;  Jun Suk Oh  ;  Hae In Lee  ;  Myeong Seob Lee  ;  Ho-Seong Kim 
Citation
 MOLECULAR AND CELLULAR ENDOCRINOLOGY, Vol.544 : 111489, 2022-03 
Journal Title
MOLECULAR AND CELLULAR ENDOCRINOLOGY
ISSN
 0303-7207 
Issue Date
2022-03
MeSH
Adolescent ; Adult ; Asians / genetics ; Body Height / genetics ; Child ; Child, Preschool ; Dwarfism, Pituitary* / genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Human Growth Hormone* / genetics ; Humans ; Republic of Korea ; Young Adult
Keywords
Idiopathic short stature ; Isolated growth hormone deficiency ; Next-generation sequencing ; Short stature
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.
Full Text
https://www.sciencedirect.com/science/article/pii/S0303720721003336
DOI
10.1016/j.mce.2021.111489
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Ah Reum(권아름) ORCID logo https://orcid.org/0000-0002-9692-2135
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Suh, Junghwan(서정환) ORCID logo https://orcid.org/0000-0002-2092-2585
Song, Kyungchul(송경철) ORCID logo https://orcid.org/0000-0002-8497-5934
Oh, Ji Young(오지영) ORCID logo https://orcid.org/0000-0003-3552-8465
Lee, Myeongseob(이명섭)
Chae, Hyun Wook(채현욱) ORCID logo https://orcid.org/0000-0001-5016-8539
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/188305
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