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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제25권 제4호
- 발행연도
- 2020.1
- 수록면
- 272 - 276 (5page)
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초록· 키워드
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Longitudinal bone growth is primarily mediated by the growth plate, which is a specialized cartilaginous structure. Aggrecan, encoded by ACAN, is a primary proteoglycan component of the extracellular matrix in both the growth plate and articular cartilage. Aggrecanopathies have emerged as a phenotype of genetic skeletal disease in humans. A heterozygous ACAN mutation causes short stature, premature growth cessation, and accelerated bone age maturation. We report the case of a 15-year-old boy with familial short stature, with height of 149 cm (Korean standard deviation score [SDS] of -3.6) and weight of 50.5 kg (-1.48 SDS). He presented with mild midfacial hypoplasia, frontal bossing, a broad chest, and a short neck. The father's and mother's heights were 150 cm (-4.8 SDS) and 153 cm (-1.69 SDS), respectively. The patient's bone age was 2?3 years more advanced than his chronological age, and no endocrine abnormalities were detected. Whole-exome sequencing followed by Sanger sequencing revealed a heterozygous ACAN mutation, c.512C>T (p.Ala171Val), in both the proband and his father. Short stature is generally associated with a delayed bone age, and this case suggests that ACAN mutations may be the most likely etiology among patients with short stature and an advanced bone age and should warrant early treatment.
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참고문헌 (18)
참고문헌 신청
Savendahl L / 2005 / Hormonal regulation of growth plate cartilage / Horm Res 64(2 Suppl):94~97
Baron J / 2015 / Short and tall stature : a new paradigm emerges / Nat Rev Endocrinol 11:735~746
Anderson IJ / 1990 / Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen / Am J Med Genet 37:272~276
Tompson SW / 2009 / A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan / Am J Hum Genet 84:72~79
김유미 / 2018 / Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature / Journal of Genetic Medicine 15(2):102~106
Baron J / 2015 / Short and tall stature : a new paradigm emerges / Nat Rev Endocrinol 11:735~746
Anderson IJ / 1990 / Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen / Am J Med Genet 37:272~276
Tompson SW / 2009 / A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan / Am J Hum Genet 84:72~79
김유미 / 2018 / Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature / Journal of Genetic Medicine 15(2):102~106
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