title: Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.
abstract: Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl2/HCO32 exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, and the Philippines, but not India. The dRTA mutation AE1 A858D has been detected only in the context of compound heterozygosity. We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site that is validated for diagnostic screening.
authors.forename: Boris E
authors.initials: BE
authors.lastname: Shmukler
authors.forename: Prabhakar S
authors.initials: PS
authors.lastname: Kedar
authors.forename: Prashant
authors.initials: P
authors.lastname: Warang
authors.forename: Mukesh
authors.initials: M
authors.lastname: Desai
authors.forename: Manisha
authors.initials: M
authors.lastname: Madkaikar
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
authors.forename: Seth L
authors.initials: SL
authors.lastname: Alper
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications / Q000235:genetics*; D019943:Amino Acid Substitution; D000745:Anemia, Hemolytic, Congenital / Q000150:complications / Q000235:genetics*; D000748:Anemia, Macrocytic / Q000150:complications / Q000188:drug therapy; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics* / Q000502:physiology; D002648:Child; D003062:Codon / Q000235:genetics; D003241:Consanguinity; D005006:Ethnicity / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007438:Introns / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D018088:Tuberculosis, Multidrug-Resistant / Q000150:complications
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D003062:Codon; C454201:SLC4A1 protein, human
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