1 Possible Causes for Mutation in the Purine Rich Element Binding Protein A Gene

Autosomal Dominant Mental Retardation 5

MOLECULAR BASIS: Caused by mutation in the purine-rich element-binding protein A gene (PURA, 600473.0001) Clinical features A number sign (#) is used with this entry because[findzebra.com] […] of evidence that oculopharyngeal muscular dystrophy (OPMD) is caused by heterozygous mutation in the gene encoding poly(A)-binding protein-2 (PABPN1; 602279) on chromosome[findzebra.com] Hypomyelination; Delayed myelination ENDOCRINE: Gonadotropin-dependent precocious puberty (1 patient) MISCELLANEOUS: Onset at birth or early infancy; Variable severity; De novo mutation[findzebra.com]

Further symptoms

• Brain MRI or CT Scan Normal
• Electroencephalogram Abnormal
• Mild to Severe Mental Retardation
• Most Mutations Occur De Novo
• Muscle Hypotonia
• Mutation in the SYNGAP1 Gene