Pre- and post-natal growth in two sisters with 3-M syndrome

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• 3-M syndrome is a rare autosomal recessive primordial dwarfism.
• Characterized by severe pre- and post-natal growth restriction and minor skeletal abnormalities.
• Prenatal growth descriptions are often lacking in existing literature.

Purpose of the Study:

• To describe the prenatal and postnatal growth patterns in a family with variable phenotypic features of 3-M syndrome.
• To identify the genetic basis of the condition in the reported family.
• To investigate the impact of a novel CUL7 mutation on growth.

Main Methods:

• Clinical evaluation of affected individuals.
• Detailed anthropometric measurements (prenatal and postnatal).
• Genetic analysis to identify mutations in the CUL7 gene.

Main Results:

• Two sisters with 3-M syndrome presented with variable phenotypic features.
• A novel homozygous CUL7 mutation (c.3173-1G>C) was identified.
• Both sisters exhibited significant pre- and post-natal growth deficiency with normal cranial circumference.

Conclusions:

• The novel CUL7 mutation contributes to the phenotypic variability observed in 3-M syndrome.
• This study provides detailed prenatal growth data for 3-M syndrome.
• Understanding genotype-phenotype correlations is crucial for managing 3-M syndrome.