The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature
Authors' conclusion
The high diagnostic yield sheds a new light on the genetic landscape of SGA-SS, with a central role for the growth plate with substantial contributions from the GH-IGF-1 and thyroid axes and intracellular regulation and signalling.
Study context
- Population
- Children born SGA with persistent short stature (SGA-SS: birth length and/or weight <−2 SD for gestational age and life-minimum height <−2.5 SD), treated with growth hormone (GH), with DNA triplet (child and both parents) availableof 256 SGA-SS
- Participants
- 176 children
- Outcome
- Genetic aetiology of SGA-SS (diagnostic yield)
Methodological detailssingle-centre, genetic testing: karyotype/FISH/MLPA/Sanger, MS-MLPA, whole-exome sequencing or 398-gene panel, ACMG variant classification
- Single-centre
- Genetic testing: karyotype/FISH/MLPA/Sanger, MS-MLPA, whole-exome sequencing or 398-gene panel
- ACMG variant classification
Main finding
As reported in the abstract
Genetic aetiology elucidated
- Genetic aetiology elucidated
- 74/176 (42%)
- P/LP variants: pituitary development or GH-IGF-1/IGF-2 axis
- 12/74 (16%)
- Thyroid axis (TRHR, THRA)
- 2/74 (3%)
- Cartilaginous matrix (ACAN, collagens, FLNB, MATN3)
- 17/74 (23%)
- Paracrine chondrocyte regulation (FGFR3, FGFR2, NPR2)
- 7/74 (9%)
- P/LP affecting fundamental intracellular/intranuclear processes
- 12/74 (16%)
- SHOX deficiency
- 7/74 (9%)
- Silver-Russell syndrome (11p15, UPD7)
- 12/74 (16%)
- Miscellaneous chromosomal aberrations
- 5/74 (7%)
Observational data: associations, not effects.
Original publication
The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature. Horm Res Paediatr. Published 5 April 2023. doi:10.
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