Carbonic anhydrase II deficiency: report of a novel mutation.
PMID 28509178 | PMCID PMC5411668 | DOI 10.1007/s13730-015-0205-y · CEN case reports · 2016 · View on PubMed ↗
Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and mental retardation. Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity. We report a case of carbonic anhydrase II deficiency with short stature, mixed renal tubular acidosis, recurrent bone fractures due to trivial trauma, recurrent renal stones and cerebral calcification. This patient was compound heterozygous for a novel CA2 mutation and a previously reported mutation in Arabs.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CA2 | “Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and mental retardation.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity.” | 0.95 | saudi_context_rules_v1 |