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Last update

21/6/2017

Phenotype: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis

OMIM: 611492
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

CA2 || c.232+1G>A (c.IVS2+1G>A)

Gene/Locus:	CA2
Dna Change:	c.232+1G>A (c.IVS2+1G>A)
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 2
Transcript:	NM_000067.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	22 patients (from 12 families)/24 patients (from 14 families)	NA	Fathallah DM et al., 1997Fathallah DM, Bejaoui M, Lepaslier D, Chater K, Sly WS, Dellagi K, . Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus.. Hum. Genet.. 1997; 99(5):634-7

References

Fathallah DM, Bejaoui M, Lepaslier D, Chater K, Sly WS, Dellagi K, Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus.Hum. Genet.. 1997; 99(5):634-7

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis

References