PMC8734028_01
Pedigree and Sanger sequencing chromatograms of the identified disease-causing variants. (A) Pedigree of the WSS family. Marks '+/+' and '+/-' indicate the homozygous status and heterozygous status of the identified the DCAF17:c.1488_1489delAG respectively. (B) Sanger sequencing chromatograms of the DCAF17:c.1488_1489delAG in homozygous status (above) and heterozygous status (below).
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f1
5ml venous blood was collected from the proband (II-1,  Figure 1A ) and her family members (I-1, I-2, II-2 and II-3,  Figure 1A ). Phenolyzer. Phenolyzer suggested that WSS was the most likely disease that can explain the syndrome phenotypes of the proband, and the DCAF17 gene was the candidate gene ( Supplementary Figure 1 ). A homozygous deletion DCAF17:c.1488_1489delAG was detected at genomic position 172,337,546-172,337,547 of chromosome 2 (GRCh37/Hg19), resulting in frameshift in reading frame in exon 14 leading to premature stop codon ( Figure 1B ). AG in coding region 1488-1489) was segregated with the disease in this family, which was in homozygous status in the proband's affected sibling (II-2) and heterozygous status in the proband's unaffected parents (I-1 and I-2) and sibling (II-3) ( Figure 1A ).
Photographs of the WSS patients. (A, B) The proband's hair, eyebrows and eyelashes are sparse, and infantile external genitalia. (C, D) The brother of proband: childhood-onset hair thinning, His hair, eyebrows and eyelashes are further sparse in adulthood.
fendo-12-770871-g002.jpg
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Physical examination also showed sparse scalp hair and eyebrows ( Figures 2C, D ), absence of axillary and pubic hair, hypotrophy testicles, small penis, and intellectual disability.
The images of the WSS patients. (A) Computed tomography of the abdomen of the proband demonstrated atrophy of the pancreas. (B) Computed tomography of the abdomen of the brother of proband showed uneven pancreatic density. (C, D) Pituitary MR of the brother of proband indicated the empty sella and none pituitary gland. (E) Hip CT of the brother of proband suggested osteoporosis that was not consistent with actual age. (arrows).
fendo-12-770871-g003.jpg
PMC8734028_02_fendo-12-770871-g003.jpg
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Thyroid hormone tests revealed normal thyroid function. The patient exhibited an uneven pancreatic density by abdominal CT scan ( Figure 3B ), empty sella by pituitary MRI ( Figures 3C, D ), and osteoporosis that was not consistent with actual age by hip CT scan ( Figure 3E ).
PMC8734028_02
Pedigree and Sanger sequencing chromatograms of the identified disease-causing variants. (A) Pedigree of the WSS family. Marks '+/+' and '+/-' indicate the homozygous status and heterozygous status of the identified the DCAF17:c.1488_1489delAG respectively. (B) Sanger sequencing chromatograms of the DCAF17:c.1488_1489delAG in homozygous status (above) and heterozygous status (below).
fendo-12-770871-g001.jpg
PMC8734028_02_fendo-12-770871-g001.jpg
f1
5ml venous blood was collected from the proband (II-1,  Figure 1A ) and her family members (I-1, I-2, II-2 and II-3,  Figure 1A ). Phenolyzer. Phenolyzer suggested that WSS was the most likely disease that can explain the syndrome phenotypes of the proband, and the DCAF17 gene was the candidate gene ( Supplementary Figure 1 ). A homozygous deletion DCAF17:c.1488_1489delAG was detected at genomic position 172,337,546-172,337,547 of chromosome 2 (GRCh37/Hg19), resulting in frameshift in reading frame in exon 14 leading to premature stop codon ( Figure 1B ). AG in coding region 1488-1489) was segregated with the disease in this family, which was in homozygous status in the proband's affected sibling (II-2) and heterozygous status in the proband's unaffected parents (I-1 and I-2) and sibling (II-3) ( Figure 1A ).
Photographs of the WSS patients. (A, B) The proband's hair, eyebrows and eyelashes are sparse, and infantile external genitalia. (C, D) The brother of proband: childhood-onset hair thinning, His hair, eyebrows and eyelashes are further sparse in adulthood.
fendo-12-770871-g002.jpg
PMC8734028_02_fendo-12-770871-g002.jpg
f2
Physical examination also showed sparse scalp hair and eyebrows ( Figures 2C, D ), absence of axillary and pubic hair, hypotrophy testicles, small penis, and intellectual disability.
The images of the WSS patients. (A) Computed tomography of the abdomen of the proband demonstrated atrophy of the pancreas. (B) Computed tomography of the abdomen of the brother of proband showed uneven pancreatic density. (C, D) Pituitary MR of the brother of proband indicated the empty sella and none pituitary gland. (E) Hip CT of the brother of proband suggested osteoporosis that was not consistent with actual age. (arrows).
fendo-12-770871-g003.jpg
PMC8734028_02_fendo-12-770871-g003.jpg
f3
Thyroid hormone tests revealed normal thyroid function. The patient exhibited an uneven pancreatic density by abdominal CT scan ( Figure 3B ), empty sella by pituitary MRI ( Figures 3C, D ), and osteoporosis that was not consistent with actual age by hip CT scan ( Figure 3E ).