Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of a pedigree affected with tricho-rhino-phalangeal syndrome.@*METHODS@#Next-generation sequencing (NGS) using a gene panel for hereditary osteopathies was carried out for the proband. Suspected mutation was validated in the proband and her parents by Sanger sequencing.@*RESULTS@#A heterozygous frameshift variation c.1995dupA (p.Gly666Argfs*20) of the TRPS1 gene was detected in the proband but not in her parents.@*CONCLUSION@#The novel c.1995dupA (p.Gly666Argfs*20) mutation of the TRPS1 gene probably underlies the disease in the proband.