New description of an MRPS2 homozygous patient: Further features to help expend the phenotype

Area of Science:

• Genetics
• Mitochondrial Biology
• Neurodevelopmental Disorders

Background:

• Mutations in mito-ribosomal protein S2 (MRPS2) are associated with a spectrum of rare genetic disorders.
• Previous cases of MRPS2 mutations presented with sensorineural hearing impairment, developmental delay, hypoglycemia, lactic acidemia, and oxidative phosphorylation deficiencies.

Observation:

• A novel homozygous MRPS2 mutation was identified in a subject with a unique clinical presentation.
• The subject exhibited initial microcephaly, joint hypermobility, and autistic features.

Findings:

• This case expands the known phenotypic spectrum of MRPS2-related disorders.
• The observed features, including microcephaly, joint hypermobility, and autistic features, have not been previously reported in association with MRPS2 mutations.

Implications:

• Understanding the full phenotypic variability of MRPS2 mutations is crucial for accurate diagnosis and genetic counseling.
• Further research into the molecular mechanisms underlying MRPS2 function may reveal new therapeutic targets for mitochondrial and neurodevelopmental disorders.