Sohn Young Bae, Ki Chang-Seok, Park Sung Won, Cho Sung-Yoon, Ko Ah-Ra, Kwon Min-Jung, Kim Ji-Youn, Park Hyung-Doo, Kim Ok-Hwa, Jin Dong-Kyu
Department of Medical Genetics Ajou University Hospital, Suwon, Korea.
Ann Clin Lab Sci. 2012 Summer;42(3):307-12.
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.
I型毛发-鼻-指综合征（TRPSI）是一种罕见的常染色体显性遗传性疾病，其特征为毛发稀疏、鼻头肿大、人中长、上唇薄以及骨骼异常，包括锥形骨骺、指骨缩短和身材矮小。TRPSI由TRPS1基因突变引起。在此，我们报告两例韩国TRPSI患者。尽管两名患者（一名17岁女性和一名14岁男性）均有典型临床表现，但患者1还存在额外的生长激素（GH）缺乏。使用重组人生长激素（rhGH）0.7 IU/kg/周进行治疗使生长速度加快。在10多年的GH治疗中，平均生长速度为5.7±0.9厘米/年。然而，患者2通过GH刺激试验未显示明显的GH缺乏，对rhGH治疗反应不佳，6个月后停止GH治疗。对TRPS1基因进行遗传分析时，发现了两个突变。患者1有一个杂合突变c.2520dupT（p.Arg841LysfsX3），此前未见报道。患者2有一个已知的无义突变c.1630C>T（p.Arg544X）。总之，我们是首个报告TRPS1基因突变的韩国患者。
