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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.6
- 수록면
- 505 - 510 (6page)
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초록· 키워드
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Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease’s clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.
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등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Moeschler JB / 2006 / Clinical genetic evaluation of the child with mental retardation or developmental delays / Pediatrics 117:2304~2316
Clayton-Smith J / 2011 / Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome / Am J Hum Genet 89:675~681
Campeau PM / 2012 / The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms / Hum Mutat 33:1520~1525
Kraft M / 2011 / Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice / J Clin Invest 121:3479~3491
Simpson MA / 2012 / De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome / Am J Hum Genet 90:290~294
Clayton-Smith J / 2011 / Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome / Am J Hum Genet 89:675~681
Campeau PM / 2012 / The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms / Hum Mutat 33:1520~1525
Kraft M / 2011 / Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice / J Clin Invest 121:3479~3491
Simpson MA / 2012 / De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome / Am J Hum Genet 90:290~294
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