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RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.

S Tasdemir, I Sahin, D J Morris-Rosendahl

    Genetic Counseling (Geneva, Switzerland)
    |February 9, 2016
    PubMed
    Summary

    Warburg Micro Syndrome (WARBM) is a severe neurodevelopmental disorder. A recurrent RAB3GAP1 mutation, c.748+1G>A, is common in Turkish patients with WARBM, with no specific associated phenotypic findings.

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    Area of Science:

    • Genetics
    • Neurodevelopmental Disorders
    • Ophthalmology

    Background:

    • Warburg Micro Syndrome (WARBM) is a rare, severe autosomal recessive neurodevelopmental disorder.
    • It is characterized by microcephaly, microphthalmia, microcornea, congenital cataract, cortical dysplasia, corpus callosum hypoplasia, intellectual disability, hypotonia, and hypogonadism.
    • Mutations in RAB3GAP1 and RAB3GAP2 genes, encoding RAB3GTPase-activating protein, are implicated in WARBM, affecting brain, eye, and genitalia development.

    Observation:

    • This study investigated recurrent RAB3GAP1 mutations and clinical features in Turkish patients with WARBM.
    • Two brothers from a non-consanguineous Turkish family presented with clinical features consistent with WARBM.
    • The c.748+1G>A splice-site mutation in RAB3GAP1 intron 8 was identified and found to be common in this family.

    Findings:

    • The c.748+1G>A splice-site mutation in RAB3GAP1 is recurrent and appears to be prevalent in Turkish patients with WARBM.
    • This mutation has so far only been detected in patients of Turkish ethnic origin.
    • No specific phenotypic findings were uniquely associated with this mutation, despite minor variations like an extra finger crease or nephrolithiasis in one patient.

    Implications:

    • The findings highlight the importance of genetic analysis in diagnosing WARBM, particularly in populations with recurrent mutations.
    • Understanding the prevalence of specific mutations like c.748+1G>A in certain ethnic groups can aid in genetic counseling and diagnosis.
    • Further research may elucidate genotype-phenotype correlations for RAB3GAP1 mutations in WARBM.