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논문 기본 정보

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저자정보
Kim Soo Yeon (Pediatric Clinical Neuroscience Center Department of Pediatrics Seoul National University Children’) Shin Chang Ho (Division of Pediatric Orthopedics Department of Orthopaedic Surgery Seoul National University Child) Lee Young Ah (Division of Endocrinology Department Pediatrics Seoul National University Children’s Hospital Seoul) Shin Choong Ho (Division of Endocrinology Department Pediatrics Seoul National University Children’s Hospital Seoul) Yang Sei Won (Division of Endocrinology Department Pediatrics Seoul National University Children’s Hospital Seoul) Cho Tae-Joon (Division of Pediatric Orthopedics Department of Orthopaedic Surgery Seoul National University Child) Ko Jung Min (Division of Clinical Genetics Department of Pediatrics Seoul National University Children’s Hospita)
저널정보
대한진단검사의학회 Annals of Laboratory Medicine Annals of Laboratory Medicine 제41권 제4호
발행연도
2021.1
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401 - 408 (8page)

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Background: Silver-Russell syndrome (SRS) is a pre- or post-natal growth retardation disorder caused by (epi)genetic alterations. We evaluated the molecular basis and clinical value of sequential epigenetic analysis in pediatric patients with SRS. Methods: Twenty-eight patients who met≥3 Netchine-Harbison clinical scoring system (NH-CSS) criteria for SRS were enrolled;26 (92.9%) were born small for gestational age, and 25 (89.3%) showed postnatal growth failure. Relative macrocephaly, body asymmetry, and feeding difficulty were noted in 18 (64.3%), 13 (46.4%), and 9 (32.1%) patients, respectively. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) on chromosome 11p15 was performed as the first diagnostic step. Subsequently, bisulfite pyrosequencing (BP) for imprinting center 1 and 2 (IC1 and IC2) at chromosome 11p15, MEST on chromosome 7q32.2, and MEG3 on chromosome 14q32.2 was performed. Results:. Seventeen (60.7%) patients exhibited methylation defects, including loss of IC1 methylation (N=14; 11 detected by MS-MLPA and three detected by BP) and maternal uniparental disomy 7 (N=3). The diagnostic yield was comparable between patients who met three or four of the NH-CSS criteria (53.8% vs 50.0%). Patients with methylation defects responded better to growth hormone treatment. Conclusions: NH-CSS is a powerful tool for SRS screening. However, in practice, genetic analysis should be considered even in patients with a low NH-CSS score. BP analysis detected additional methylation defects that were missed by MS-MLPA and might be considered as a first-line diagnostic tool for SRS.
#Silver?Russell syndrome #Netchine-Harbison clinical scoring system (NH-CSS) #Epigenetic analysis #Methylation defects #Bisulfite pyrosequencing

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참고문헌 (33)

참고문헌 신청
Silver HK / 1953 / Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins / Pediatrics 12:368~376 google schola Russell A / 1954 / A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples) / Proc R Soc Med 47:1040~1044 google schola Wollmann HA / 1995 / Growth and symptoms in Silver–Russell syndrome: review on the basis of 386 patients / Eur J Pediatr 154:958~968 google schola Eggermann T / 2010 / Russell–Silver syndrome / Am J Med Genet C Semin Med Genet 154C:355~364 google schola Gicquel C / 2005 / Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver–Russell syndrome / Nat Genet 37:1003~1007 google schola

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