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Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency

Sohn, YB; Ki, CS; Park, SW; Cho, SY; Ko, AR; Kwon, MJ; Kim, JY; Park, HD; Kim, OH; Jin, DK
Annals of clinical and laboratory science, 42(3):307-312, 2012
Journal Title
Annals of clinical and laboratory science
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.
MeSH terms
AdolescentAmino Acid SequenceAsian Continental Ancestry Group/geneticsBase SequenceChildChild, PreschoolDNA Mutational AnalysisDNA-Binding Proteins/chemistry/geneticsFemaleFingers/abnormalities/pathology/radiographyHair Diseases/*genetics/*pathology/radiographyHand/radiographyHuman Growth Hormone/*deficiency/*geneticsHumansInfant, NewbornLanger-Giedion Syndrome/*genetics/*pathology/radiographyMaleMolecular Sequence DataMutation/geneticsNose/abnormalities/pathology/radiographyRepublic of KoreaTranscription Factors/chemistry/genetics
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Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
손, 영배김, 옥화
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