Homozygous SLC39A7 mutation in a patient with autosomal recessive agammaglobulinemia.
Family Pedigree with SLC39A7 allele segregation. The black-filled symbol indicates the proband (P) having the novel homozygous SLC39A7 mutation. Symbols consisting of black and white colours indicate heterozygous disease carriers as determined by targeted sequencing. Diagonal bar indicates diseased individual. Generations are designated by a Roman numeral (I and II), and each individual by an Arabic numeral (from left to right). DNA was obtained for genetic analysis from all individuals to whom a number is assigned. Automated sequencing profiles show homozygous c.1051A>G, p.T351A mutation in the proband (II.3; P) and heterozygous mutations in four family members (I.2, II.1, II.2, II.4). C, Control.
B) Schematic representation of domain structure of ZIP7 and localization of mutations. Numbers above and below the scheme indicate the amino acid residue numbers. Numbers below the scheme show the borders of histidine-rich domains. Positions of the identified SLC39A7 variants including six missense (P190A, L217P, T351A, E363K, T395I, G458A) and two nonsense (Q372X, E451X) mutations. The novel T351A mutation is marked in red. Mutations in bold were observed in homozygous form. TM, transmembrane; His, histidine.