PMC8440907_01
PMC8440907_02
(A) craniofacial dysmorphism (B). polydactyly (C) MTS in brain MRI.
fgene-12-738157-g0001.jpg
PMC8440907_02_fgene-12-738157-g0001.jpg
F1
Immediately after birth, craniofacial dysmorphisms with a flat nasal bridge, almond-shaped eye, and a minor midline notch in the upper lips and postaxial polydactyly of the hands and feet were noticed (Figures 1A,B). Fundoscopic examination showed no retinal dystrophy, and cranial MRI showed MTS (Figure 1C).
DNA electrophoregram with the c.535C >G in exon8 and c.853G>T in exon11.
fgene-12-738157-g0002.jpg
PMC8440907_02_fgene-12-738157-g0002.jpg
F2
Standards and Guidelines for the interpretation of sequence variants were followed in this study.Two heterozygous variants in IFT74, NM_025103.4,c.535C>G(p.Q179E)/c.853G>T(p.E285*) were identified. Sanger sequencing showed the variants were inherited from the parents, confirming that the variants were indeed biallelic (Figures 2, 3). c.535C>G(p.Q179E) was predicted to be "disease causing" with a score of 0.99 (MutationTaster), "benign" with a score of 0.126 (PolyPhen-2), and "tolerated" with a score of 0.14 (SIFT), and c.853G>T(p.E285*) was predicted to be "disease causing" with a score of 1 (MutationTaster).
Pedigree of the family.
fgene-12-738157-g0003.jpg
PMC8440907_02_fgene-12-738157-g0003.jpg
F3
Standards and Guidelines for the interpretation of sequence variants were followed in this study.Two heterozygous variants in IFT74, NM_025103.4,c.535C>G(p.Q179E)/c.853G>T(p.E285*) were identified. Sanger sequencing showed the variants were inherited from the parents, confirming that the variants were indeed biallelic (Figures 2, 3). c.535C>G(p.Q179E) was predicted to be "disease causing" with a score of 0.99 (MutationTaster), "benign" with a score of 0.126 (PolyPhen-2), and "tolerated" with a score of 0.14 (SIFT), and c.853G>T(p.E285*) was predicted to be "disease causing" with a score of 1 (MutationTaster).