PMC10017860_01
The genetic and clinical characteristics of SIFD patients. (A) Patient 1 at the age of 14 years presented with hypotrophic muscle and arthritis. (B). Patient 2 at the age of 7 years presented with hypotrophic muscle and arthritis. (C) Patient 3 at the age of 11 months. (D) The pedigree of siblings in the first family with patient 1 and patient 2. (E) The pedigree of patient 3. (F) The Sanger sequencing chromatograms of TRNT1 gene compound heterozygous variations of the family with patient 3. The mutation c.574C > T (p.Q192*) inherited from her mother and c.464T > C (p.I155T) inherited from her father. (G) The conserved amino acid sequence in protein TRNT1. The black arrow points a conservative amino acid (Ile155) of protein TRNT1 in human. SIFD, sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay.
fped-11-1001222-g001.jpg
PMC10017860_02_fped-11-1001222-g001.jpg
F1
At this point, he was 8 years old, 11 kg (<-3 SD) in weight, 98 cm (<-3 SD) in height, had a 49-cm head circumference (Figure 1B), and could speak simple and short sentences with three to seven words, but the pronunciation was not clear. Patient 3 (P3), a Chinese girl, was born from a pair of non-consanguineous Chinese individuals through normal pregnancy (Figure 1C). Figures 1D,E show the pedigrees of the two families in this study. The compound heterozygous TRNT1 variant with two functional mutations at c.574C > T (p.Q192*) (inherited from her mother) and c.464T > C (p.I155T) (inherited from her father) was identified through whole-exome sequencing (Figure 1F).
PMC10017860_02
The genetic and clinical characteristics of SIFD patients. (A) Patient 1 at the age of 14 years presented with hypotrophic muscle and arthritis. (B). Patient 2 at the age of 7 years presented with hypotrophic muscle and arthritis. (C) Patient 3 at the age of 11 months. (D) The pedigree of siblings in the first family with patient 1 and patient 2. (E) The pedigree of patient 3. (F) The Sanger sequencing chromatograms of TRNT1 gene compound heterozygous variations of the family with patient 3. The mutation c.574C > T (p.Q192*) inherited from her mother and c.464T > C (p.I155T) inherited from her father. (G) The conserved amino acid sequence in protein TRNT1. The black arrow points a conservative amino acid (Ile155) of protein TRNT1 in human. SIFD, sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay.
fped-11-1001222-g001.jpg
PMC10017860_02_fped-11-1001222-g001.jpg
F1
At this point, he was 8 years old, 11 kg (<-3 SD) in weight, 98 cm (<-3 SD) in height, had a 49-cm head circumference (Figure 1B), and could speak simple and short sentences with three to seven words, but the pronunciation was not clear. Patient 3 (P3), a Chinese girl, was born from a pair of non-consanguineous Chinese individuals through normal pregnancy (Figure 1C). Figures 1D,E show the pedigrees of the two families in this study. The compound heterozygous TRNT1 variant with two functional mutations at c.574C > T (p.Q192*) (inherited from her mother) and c.464T > C (p.I155T) (inherited from her father) was identified through whole-exome sequencing (Figure 1F).