Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study
Authors' conclusion
SGA-SS has a heterogeneous genetic basis, with CNVs significantly contributing. The variable presentation of 22q11.2 microdeletion syndrome highlights its relevance. A genetic diagnosis is more likely in familial cases or those with ID/DD, supporting the utility of genetic testing.
Study context
- Population
- Children born small for gestational age (SGA) with short stature due to failure of catch-up growth (SGA with short stature (SGA-SS)), 7 hospitals in South Korea
- Participants
- 191 children
- Outcome
- Genetic causes of SGA-SS (diagnostic rate of whole-exome sequencing)
Methodological detailsmulticentre, whole-exome sequencing, copy number variants (CNVs) confirmed by chromosomal microarray
- Multicentre
- Whole-exome sequencing
- CNVs confirmed by chromosomal microarray
Main finding
As reported in the abstract
Children with genetic variants identified
34
17.8% diagnostic rate
CNVs among diagnosed
50%
17/34
22q11.2 microdeletion syndrome, mostly mild dysmorphic features without severe intellectual disability (ID), developmental delay (DD) or severe anomalies
6 children
Single-nucleotide variants (SNVs) among diagnosed
17 children
17/34, 50%
Further findings
Genetic causes in patients with ID/DD
- Genetic causes identified in patients with ID/DD
- 14 (58.3%) of 24
- CNVs among them
- 9
- SNVs among them
- 5
SNV types
- Compound heterozygous SLC26A2 mutations (1 likely pathogenic, 1 of uncertain significance)
- 1 child
- Heterozygous pathogenic variants (COL2A1, ACAN, SALL1, TAOK1, ANKRD11)
- 5
- Heterozygous likely pathogenic variants (PIK3R1, PLAG1, SCUBE3, COL9A2 ×2, SMAD4, PTPN11 ×2, CDKN1C, ACAN, NF1)
- 11
- Novel familial Silver-Russell syndrome case linked to CDKN1C mutation
Original publication
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