Clinical Characteristics of KMT2A Gene‐Related Wiedemann–Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short‐Stature Children
Authors' conclusion
This study provided a comprehensive analysis between phenotypes and genotypes of KMT2A variants and WSS. Our findings indicated that patients with WSS may experience favourable outcomes with rhGH therapy.
Study context
- Population
- Children with short stature and Wiedemann-Steiner syndrome due to KMT2A variants: 3 new male patients from unrelated families plus all reported wiedemann-Steiner syndrome (WSS) cases worldwide333 reported cases reviewed
- Participants
- 3 children
- Outcome
- Clinical characteristics of WSS (reported cases)
Methodological detailswhole-exome sequencing
- Whole-exome sequencing
Main finding
As reported in the abstract
- Reported WSS cases
- 333
- Types of KMT2A variants described
- 269
- Intellectual disorder
- 92.9%, 250/269
- Developmental delay
- 87.9%, 175/199
- Generalized hypertrichosis
- 76.7%, 66/86
- Short stature
- 70.9%, 61/86
Observational data: associations, not effects.
Further findings
New patients: age and height Z-score
- Average age (years)
- 8.3 ± 8.9
- Average height Z-score
- −3.9 ± 1.8
- KMT2A variants detected by whole-exome sequencing (WES)
- 3
Height Z-score with recombinant human growth hormone (rhGH) treatment (14 patients) · average treatment duration 25.7 ± 23.1 months
- Height Z-score increased from −3.3 ± 1.2 to −1.8 ± 1.0
- P < 0.001
- Correlation of height Z-score with treatment duration
- r = 0.899, p < 0.0001
Height Z-score change after rhGH: Growth hormone deficiency (GHD) (7) vs non-GHD (5)
- No significant difference in height Z-score change between GHD and non-GHD patients
Original publication
Clinical Characteristics of KMT2A Gene‐Related Wiedemann–Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short‐Stature Children. Clin Endocrinol (Oxf). Published 1 July 2025. doi:10.
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