Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review - Report - MDSpire
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Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review
Clinical Report: Identification of a New PTHLH Nonsense Mutation in a Mother and Son
Overview
This case study identifies a novel heterozygous nonsense mutation in PTHLH in a mother-son pair with brachydactyly type E and short stature.
Background
Brachydactyly type E is a rare skeletal disorder linked to pathogenic variants in the PTHLH gene, which is crucial for bone growth regulation.
Data Highlights
No numerical data or trial data was provided in the source material.
Key Findings
A novel heterozygous nonsense variant in PTHLH (c.82G>T, p.(Glu28Ter)) was identified in a mother-son pair.
The proband exhibited short stature, brachydactyly, mild developmental delay, and craniofacial features.
Radiographic findings included generalized shortening of metacarpals, metatarsals, and phalanges, along with premature epiphyseal fusion.
Short stature is common but variably penetrant in PTHLH-associated brachydactyly type E.
Loss-of-function variants, especially early truncating variants, are more frequently associated with growth impairment.
The molecular diagnosis supported longitudinal growth monitoring in the absence of GH-IGF-1 axis abnormalities.
Clinical Implications
Recognition of brachydactyly with short stature and normal biochemical findings should prompt consideration of PTHLH-related disease and molecular testing.
Conclusion
This case expands the mutational spectrum of PTHLH.
