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Anthropometric Phenotype of Patients with PMM2-CDG
Patryk Lipiński1, Agnieszka Różdżyńska-Świątkowska2, Anna Bogdańska3
1Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Insights
Children with PMM2-CDG often experience growth failure. Patients with the R141H variant showed more severe growth and head circumference deficits, highlighting genotype-phenotype correlations.
Area of Science:
- Pediatric Endocrinology
- Clinical Genetics
- Human Growth and Development
Background:
- Congenital disorder of glycosylation type II (PMM2-CDG) is frequently associated with growth failure in pediatric populations.
- Understanding the detailed growth patterns and their genetic underpinnings is crucial for patient management.
Purpose of the Study:
- To characterize the longitudinal anthropometric phenotype in children with PMM2-CDG.
- To investigate potential correlations between specific PMM2 genotypes and observed anthropometric outcomes.
Main Methods:
- Retrospective review of medical records for PMM2-CDG patients.
- Analysis of anthropometric data including head circumference, body length/height, body weight, and BMI.
- Correlation of phenotypic data with identified PMM2 gene variants.
Main Results:
- A general trend of negative growth evolution was observed across the patient cohort.
- Patients heterozygous for the R141H PMM2 variant exhibited significantly slower growth rates compared to other patients.
- Body weight demonstrated a positive correlation with body height, and head circumference growth showed a negative trend.
Conclusions:
- Long-term observational studies are vital for comprehensively defining the anthropometric phenotype of PMM2-CDG.
- Growth failure, particularly in body size and head circumference, is more pronounced in PMM2-CDG patients carrying the R141H heterozygous variant.
Background:
Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and anthropometric phenotype.
Materials And Methods:
Retrospective chart review of PMM2-CDG patients' medical records was performed regarding the anthropometric measurements (head circumference, body length/height, body weight, body mass index) and PMM2 variants.
Results:
A negative tendency of growth evolution was observed. Patients found to be heterozygous for R141H grew slower than other patients. Body weight was correlated with body height. A negative tendency of the growth rate of head circumference was observed. Patients found to be heterozygous for R141H experienced slower growth than other patients.
Conclusions:
Long-term observational studies are essential to characterize the anthropometric phenotype. The body growth failure, as well as head circumference growth failure, were more severe in patients found to be heterozygous for R141H.
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