title: Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.
abstract: Tricho-rhino-phalangeal syndrome type I (TRPSI) is a rare autosomal dominant hereditary disorder characterized by sparse hair, bulbous nose, long philtrum, thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. TRPSI is caused by mutations in the TRPS1 gene. Herein, we report two Korean cases of TRPSI. Although both patients (a 17-year-old-female and a 14-year-old male) had typical clinical findings, Patient 1 had an additional growth hormone (GH) deficiency. Treatment with recombinant human growth hormone (rhGH) 0.7 IU/kg/week led to an increase in growth velocity. Over 10 years of GH therapy, the mean growth velocity was 5.7 ± 0.9 cm/year. However, the patient 2 did not show apparent GH deficiency by GH stimulation test, had a poor response with rhGH therapy and GH therapy was discontinued after 6 months. Upon genetic analysis of the TRPS1 gene, two mutations were found. Patient 1 had a heterozygous mutation c.2520dupT (p.Arg841LysfsX3) which had not been previously reported. Patient 2 had a known nonsense mutation c.1630C>T (p.Arg544X). In summary, we were the first to report Korean patients with mutation of TRPS1.
authors.affiliation: Department of Medical Genetics Ajou University Hospital, Suwon, Korea.
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Park
authors.forename: Sung-Yoon
authors.initials: SY
authors.lastname: Cho
authors.forename: Ah-Ra
authors.initials: AR
authors.lastname: Ko
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Kwon
authors.forename: Ji-Youn
authors.initials: JY
authors.lastname: Kim
authors.forename: Hyung-Doo
authors.initials: HD
authors.lastname: Park
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D006201:Hair Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D006225:Hand / Q000000981:diagnostic imaging; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D015826:Langer-Giedion Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009666:Nose / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D012097:Repressor Proteins; D056910:Republic of Korea; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors; D019382:Human Growth Hormone