Three M syndrome 2 in two Indian patients

Area of Science:

• Genetics
• Molecular Biology
• Pediatrics

Background:

• 3-M syndrome is a rare autosomal recessive disorder.
• It is characterized by short stature, distinctive facial features, and the absence of microcephaly and intellectual disability.
• 3-M syndrome 2 is specifically caused by biallelic variants in the OBSL1 gene.

Observation:

• This study investigated two families with 3-M syndrome from the Indian population.
• Two probands were identified with specific OBSL1 gene variants: one with homozygous c.1534+5G>T and another with compound heterozygous c.35dup and c.1273dup variants.

Findings:

• The study identified and characterized novel homozygous and compound heterozygous variants in the OBSL1 gene.
• These findings represent the first molecularly confirmed cases of 3-M syndrome 2 in individuals of Indian ethnicity.
• Detailed clinical and molecular data were collected for the identified probands.

Implications:

• This research expands the known spectrum of OBSL1 variants associated with 3-M syndrome.
• It contributes to the understanding of the genetic basis of 3-M syndrome in diverse ethnic populations.
• The findings may aid in improved genetic diagnosis and counseling for families affected by this rare disorder.