Mutation Analysis of Tricho-Rhino-Phalangeal Syndrome by Whole-Exome Sequencing
A 14-year-old boy presented with sparse hair growth and slow development since birth.Physical examination revealed large ears,wide-set eyes,a pear-shaped nose,wide and long philtrum,thin upper lip,irregular teeth,sparse hair,eyebrows,and eyelashes,and thickened skin.He also had curved fingers,swollen interphalangeal joints,and short,thick thumbs.The family history indicated that 5 out of 10 individuals across 3 generations were affected,including the proband,his maternal grandfather,uncle,mother,and sister.Genetic testing revealed a heterozygous mutation c.2066_2067del(p.Q689fs)in exon 4 of theTRPSS1 gene on chromosome 8 in the proband and his mother,while the father did not carry the mutation.Based on the medical history,clinical presentation,and genetic testing results,a diagnosis of Tricho-Rhino-Phalangeal Syndrome was made.
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