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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 제21권 제3호
- 발행연도
- 2016.1
- 수록면
- 126 - 135 (10page)
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초록· 키워드
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The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndrome caused by the loss of at least 2 of a number of genes expressed exclusively from the paternal allele, including SNRPN, MKRN3, MAGEL2, NDN and several snoRNAs, but it is not yet well known which specific genes in this region are associated with this syndrome. Prader-Will-Like syndrome (PWLS) share features of the PWS phenotype and the gene functions disrupted in PWLS are likely to lie in genetic pathways that are important for the development of PWS phenotype. However, the genetic basis of these rare disorders differs and the absence of a correct diagnosis may worsen the prognosis of these individuals due to the endocrine-metabolic malfunctioning associated with the PWS. Therefore, clinicians face a challenge in determining when to request the specific molecular test used to identify patients with classical PWS because the signs and symptoms of PWS are common to other syndromes such as PWLS. This review aims to provide an overview of current knowledge relating to the genetics of PWS and PWLS, with an emphasis on identification of patients that may benefit from further investigation and genetic screening.
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등록된 정보가 없습니다.
참고문헌 (98)
참고문헌 신청
Murrell A / 2014 / Cross-talk between imprinted loci in PraderWilli syndrome / Nat Genet 46:528~530
Holm VA / 1993 / Prader-Willi syndrome: consensus diagnostic criteria / Pediatrics 91:398~402
Holland AJ / 1995 / Characteristics of the eating disorder in Prader-Willi syndrome: implications for treatment / J Intellect Disabil Res 39(Pt 5):373~381
Whittington JE / 2001 / Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region / J Med Genet 38:792~798
Swaab DF / 1997 / Prader-Willi syndrome and the hypothalamus / Acta Paediatr Suppl 423:50~54
Holm VA / 1993 / Prader-Willi syndrome: consensus diagnostic criteria / Pediatrics 91:398~402
Holland AJ / 1995 / Characteristics of the eating disorder in Prader-Willi syndrome: implications for treatment / J Intellect Disabil Res 39(Pt 5):373~381
Whittington JE / 2001 / Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region / J Med Genet 38:792~798
Swaab DF / 1997 / Prader-Willi syndrome and the hypothalamus / Acta Paediatr Suppl 423:50~54
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