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.