Phenotype: Wolcott-Rallison syndrome


OMIM: 226980
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

EIF2AK3 || c.2704C>T

Gene/Locus:    EIF2AK3
Dna Change:    c.2704C>T
Protein Change:    p.R902X
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 13
Transcript:   

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlbaniaNANA1 patientNASpehar Uroić A et al., 2014Spehar Uroić A, Mulliqi Kotori V, Rojnić Putarek N, Kušec V, Dumić M, . Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.. Eur. J. Pediatr.. 2014; 173(4):529-31

References

Spehar Uroić A, Mulliqi Kotori V, Rojnić Putarek N, Kušec V, Dumić M, Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.Eur. J. Pediatr.. 2014; 173(4):529-31