RGD Reference Report - Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. - Rat Genome Database

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Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.

Authors: Shteyer, E  Saada, A  Shaag, A  Al-Hijawi, FA  Kidess, R  Revel-Vilk, S  Elpeleg, O 
Citation: Shteyer E, etal., Am J Hum Genet. 2009 Mar;84(3):412-7. doi: 10.1016/j.ajhg.2009.02.006. Epub 2009 Mar 5.
RGD ID: 11344905
Pubmed: PMID:19268275   (View Abstract at PubMed)
PMCID: PMC2668012   (View Article at PubMed Central)
DOI: DOI:10.1016/j.ajhg.2009.02.006   (Journal Full-text)

Steatorrhea and malabsorption of lipid-soluble vitamins due to exocrine pancreatic insufficiency are common in patients with cystic fibrosis and are predominant in Shwachman-Bodian-Diamond, Pearson, and Johanson-Blizzard syndromes. In four patients who suffered from congenital exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis, we excluded these disorders and identified, by using homozygosity mapping, a mutation in the COX4I2 gene. The COX4 protein is an essential structural subunit of cytochrome c oxidase complex and has two isoforms, encoded by two different genes. We show that the ratio of COX4I2 to COX4I1 mRNA is relatively high in human acinar cells. The mutation is associated with marked reduction of COX4I2 expression and with striking attenuation of the physiologic COX4I2 response to hypoxia. Mutation analysis of COX4I2 is warranted in patients with malabsorption due to exocrine pancreatic insufficiency and in patients with dyserythropoeitic anemia.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  IAGP 11344905DNA:mutation:cds:c.412G>A (p.E138K)(human)RGD 
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  ISOCOX4I2 (Homo sapiens)11344905; 11344905DNA:mutation:cds:c.412G>A (p.E138K)(human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal circulating fatty-acid concentration  IAGP 11344905DNA:mutation:cds:c.412G>A (p.E138K)(human)RGD 
Abnormal hemoglobin  IAGP 11344905DNA:mutation:cds:c.412G>A (p.E138K)(human)RGD 
Hepatomegaly  IAGP 11344905DNA:mutation:cds:c.412G>A (p.E138K)(human)RGD 
Hyperbilirubinemia  IAGP 11344905DNA:mutation:cds:c.412G>A (p.E138K)(human)RGD 
Pancreatic hypoplasia  IAGP 11344905DNA:mutation:cds:c.412G>A (p.E138K)(human)RGD 
Splenomegaly  IAGP 11344905DNA:mutation:cds:c.412G>A (p.E138K)(human)RGD 
Steatorrhea  IAGP 11344905DNA:mutation:cds:c.412G>A (p.E138K)(human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cox4i2  (cytochrome c oxidase subunit 4i2)

Genes (Mus musculus)
Cox4i2  (cytochrome c oxidase subunit 4I2)

Genes (Homo sapiens)
COX4I2  (cytochrome c oxidase subunit 4I2)


Additional Information