PMC6403217_01
Pedigree chart and roentgenogram.. a The family pedigree; the arrow indicates the proband (P). b Radiograph showing a "cupping" finding in the distal ulnar
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Fig1
A roentgenogram showed a cupping lesion in the distal ulnar (Fig. 1).
TRMP6 mutations.. The partial sequencing chromatograms demonstrate two novel mutations, c.1483 C>T [p.Gln495*] and c.2715del [p.Trp905*], in the TRPM6 gene. The red arrow and red box represent the positions of the nucleotide mutations in exon 13 and exon 21, respectively. WT wild type, Mut mutation, Stop stop codon (termination codon)
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PMC6403217_01_41439_2019_43_Fig2_HTML.jpg
Fig2
TRPM6 (Fig. 2). p.Gln495* was also detected in his mother's genome. These two novel mutations have not been documented in several open databases, including ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/), dbSNP (https://www.ncbi.nlm.nih.gov/projects/SNP/), ExAc (http://exac.broadinstitute.org/about), and the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php).