3例Sotos综合征的基因型与临床表现分析
目的·探讨Sotos综合征的临床特征与遗传特征，提高对中国人群Sotos综合征的认识。方法·对3例Sotos综合征患儿的临床特征和基因测序结果进行回顾性分析。结果·3例患儿均是男性，来自无关家庭，6～11月龄。3例患儿均以“智力落后”为首发症状。其中2例患儿表现为特殊面容，包括巨颅、额头突起、眼裂下斜、尖下颌、高腭弓、双颞部毛发退化；1例患儿无特殊面容。基因测序检测到3例患儿均携带一个NSD1基因杂合致病性突变，但突变位点不同。其中c.4118_4119insTGACCTT（p.L1373F fs＊18）为新发现的突变，c.5885T〉C（p.Ile1962Thr）和c.5990A〉G（p.T...
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| Published in | 上海交通大学学报（医学版） Vol. 36; no. 8; pp. 1165 - 1170 |
|---|---|
| Main Author | |
| Format | Journal Article |
| Language | Chinese |
| Published |
上海交通大学医学院附属新华医院,上海市儿科医学研究所内分泌遗传代谢病研究室,上海200092
2016
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1674-8115 |
| DOI | 10.3969/j.issn.1674-8115.2016.08.011 |
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| Abstract | 目的·探讨Sotos综合征的临床特征与遗传特征，提高对中国人群Sotos综合征的认识。方法·对3例Sotos综合征患儿的临床特征和基因测序结果进行回顾性分析。结果·3例患儿均是男性，来自无关家庭，6～11月龄。3例患儿均以“智力落后”为首发症状。其中2例患儿表现为特殊面容，包括巨颅、额头突起、眼裂下斜、尖下颌、高腭弓、双颞部毛发退化；1例患儿无特殊面容。基因测序检测到3例患儿均携带一个NSD1基因杂合致病性突变，但突变位点不同。其中c.4118_4119insTGACCTT（p.L1373F fs＊18）为新发现的突变，c.5885T〉C（p.Ile1962Thr）和c.5990A〉G（p.Tyr1997Cys）在文献中已有报道。3例患儿均确诊为Sotos综合征。结论·Sotos综合征的典型症状有助于诊断该病，DNA测序分析等基因诊断可确诊该病。Sotos综合征的表现型与基因型具有相关性。 |
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| AbstractList | 目的·探讨Sotos综合征的临床特征与遗传特征，提高对中国人群Sotos综合征的认识。方法·对3例Sotos综合征患儿的临床特征和基因测序结果进行回顾性分析。结果·3例患儿均是男性，来自无关家庭，6～11月龄。3例患儿均以“智力落后”为首发症状。其中2例患儿表现为特殊面容，包括巨颅、额头突起、眼裂下斜、尖下颌、高腭弓、双颞部毛发退化；1例患儿无特殊面容。基因测序检测到3例患儿均携带一个NSD1基因杂合致病性突变，但突变位点不同。其中c.4118_4119insTGACCTT（p.L1373F fs＊18）为新发现的突变，c.5885T〉C（p.Ile1962Thr）和c.5990A〉G（p.Tyr1997Cys）在文献中已有报道。3例患儿均确诊为Sotos综合征。结论·Sotos综合征的典型症状有助于诊断该病，DNA测序分析等基因诊断可确诊该病。Sotos综合征的表现型与基因型具有相关性。 R596; 目的·探讨Sotos综合征的临床特征与遗传特征,提高对中国人群Sotos综合征的认识.方法·对3例Sotos综合征患儿的临床特征和基因测序结果进行回顾性分析.结果·3例患儿均是男性,来自无关家庭,6～11月龄.3例患儿均以“智力落后”为首发症状.其中2例患儿表现为特殊面容,包括巨颅、额头突起、眼裂下斜、尖下颌、高腭弓、双颞部毛发退化;1例患儿无特殊面容.基因测序检测到3例患儿均携带一个NSD1基因杂合致病性突变,但突变位点不同.其中c.4118_4119insTGACCTT (p.L1373F fs*18)为新发现的突变,c.5885T＞C (p.Ile1962Thr)和c.5990A＞G (p.Tyr1997Cys)在文献中已有报道.3例患儿均确诊为Sotos综合征.结论·Sotos综合征的典型症状有助于诊断该病,DNA测序分析等基因诊断可确诊该病.Sotos综合征的表现型与基因型具有相关性. |
| Author | 康路路 刘晓青 张惠文 邱文娟 孙昱 顾学范 |
| AuthorAffiliation | 上海交通大学医学院附属新华医院,上海市儿科医学研究所内分泌遗传代谢病研究室,上海200092 |
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| Author_FL | QIU Wen-juan GU Xue-fan SUN Yu LIU Xiao-qing ZHANG Hui-wen KANG Lu-lu |
| Author_FL_xml | – sequence: 1 fullname: KANG Lu-lu – sequence: 2 fullname: LIU Xiao-qing – sequence: 3 fullname: ZHANG Hui-wen – sequence: 4 fullname: QIU Wen-juan – sequence: 5 fullname: SUN Yu – sequence: 6 fullname: GU Xue-fan |
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| DocumentTitleAlternate | Analysis of genotypes and clinical manifestations of three cases of Sotos syndrome |
| DocumentTitle_FL | Analysis of genotypes and clinical manifestations of three cases of Sotos syndrome |
| EndPage | 1170 |
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| Keywords | 基因型 NSD1 gene Sotos syndrome Sotos综合征 NSD1 genotype |
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| Notes | 31-2045/R Sotos syndrome ; NSD1 gene ; genotype KANG Lu-lu, LIU Xiao-qing, ZHANG Hui-wen, QIU Wen-juan, SUN Yu, GU Xue-fan （Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China ） Objective · To investigate the clinical and genetic characteristics of Sotos syndrome and improve the awareness of this disorder among Chinese population. Methods · Clinical characteristics and gene sequencing results of three sporadic cases of Sotos syndrome were retrospectively reviewed. Results · Three male pediatric patients aged from 6 to 11 months were from unrelated families. The first symptom of all three patients was mental retardation. Two of them showed characterized facial appearance, including macrocephaly, broad forehead, down-slanting palpebral fissures, pointed chin, high palate, and bitemporal hair sparsity. One patient had normal facial appearance. Gene sequencing found that all |
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| PublicationTitle | 上海交通大学学报（医学版） |
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| PublicationYear | 2016 |
| Publisher | 上海交通大学医学院附属新华医院,上海市儿科医学研究所内分泌遗传代谢病研究室,上海200092 |
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| SubjectTerms | NSD1 Sotos综合征 基因型 |
| Title | 3例Sotos综合征的基因型与临床表现分析 |
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