Mutation-in-the-purine-rich-element-binding-protein-a-gene: Causes & Reasons

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Possible Causes for mutation in the purine rich element binding protein a gene

Autosomal Dominant Mental Retardation Type 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]

Tyrosinemia Type 3

603233 612463 616158 Purine-Rich Element-Binding Protein A; PURA 271980 aldehyde dehydrogenase 5 family, member A1; ALDH5A1 MIM Specialties 300393 Clinical Genetics Endocrinology [azdoc.site]

PURA gene sequence analysis Succinic Semialdehyde Dehydrogenase Deficiency; SSADHD 130720 Notch 3; NOTCH3 243500 isovaleryl-CoA dehydrogenase; IVD 103580 GNAS complex locus [azdoc.site]

HH1 and HH2); 308700 anosmin 1; ANOS1 147950 fibroblast growth factor receptor 1; FGFR1 Lateral Meningocele Syndrome; LMNS Pseudohypoparathyroidism (Imprinted Methylation Mutations [azdoc.site]