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.
journal_name
Ann Clin Lab Scijournal_title
Annals of clinical and laboratory scienceauthors
Sohn YB,Ki CS,Park SW,Cho SY,Ko AR,Kwon MJ,Kim JY,Park HD,Kim OH,Jin DKsubject
Has Abstractpub_date
2012-07-01 00:00:00pages
307-12issue
3eissn
0091-7370issn
1550-8080pii
42/3/307journal_volume
42pub_type
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
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journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
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journal_title：Annals of clinical and laboratory science
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更新日期：1984-07-01 00:00:00
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