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期刊信息/Journal information
中华医学遗传学杂志
四川大学
中华医学遗传学杂志

四川大学

张思仲

双月刊

1003-9406

cjmg@cma.org.cn

028-85501165

610041

四川省成都市人民南路三段17号(四川大学华西校区)

中华医学遗传学杂志/Journal Chinese Journal of Medical GeneticsCSCD北大核心CSTPCD
查看更多>>中华医学会主办，四川大学承办。本刊以报道我国医学遗传学、人类遗传学和相关领域的基础理论、技术方法等最新研究成果；以从事医学遗传学工作的各科临床医生、计划生育工作者、大专院校和科研单位有关人员为主要读者对象。设有述评、论著、技术与方法、综述、调查报告、遗传咨询、临床细胞遗传学、病例报告等栏目。 从1998年以来被美国《医学索引》（IM）、《化学文摘》（CA）、《工程索引》（EI）、ISI数据库的Biological Abstracts及BIOSIS Previews，波兰《哥白尼索引》（IC）,荷兰《医学文摘》（EM）和俄罗斯《文摘杂志》（AJ）等国际著名检索系统收录。
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    身材矮小伴多发性骨骼发育不良1例患儿的临床表型与遗传学分析

    吕永雪戚锋锋费正华高晗露...
    244-249页
    查看更多>>摘要：目的 探讨1例身材矮小患儿的临床表型及遗传学特征。 方法 选择2021年10月7日因"生长迟缓伴鸡胸"就诊于湖州市妇幼保健院的1例患儿为研究对象，回顾性分析患儿临床资料。患儿进行全外显子组测序(WES)，并对候选变异进行Sanger测序验证。 结果 患儿为1岁男性，主要临床特点为轻度身材矮小(Z值为-2.03)、面中部发育不良及多发性骨骼发育不良，包括鸡胸、椎体形态欠规则及腰椎前缘骨缺损等。患儿的母亲、外祖母、曾外祖父均身材矮小。WES结果显示患儿ACAN基因存在母源性c.2858dupA(p.Asp953GlufsTer476)杂合移码变异。根据美国医学遗传学与基因组学学会(ACMG)变异相关指南，c.2858dupA(p.Asp953GlufsTer476)评级为可能致病性变异(PVS1＋PM2_Supporting)。患儿从出生后20月龄开始接受约11个月的人重组生长激素治疗，身高明显改善。 结论 ACAN：c.2858dupA(p.Asp953GlufsTer476)考虑为该身材矮小患儿的致病原因。 Objective To analyze the clinical phenotype and genetic basis for a child featuring familial short stature. Methods A child who was admitted to Huzhou Maternal and Child Health Care Hospital on October 7, 2021 for growth retardation and pectus carinatum was selected as the study subject. Physical exam and medical imaging was performed. The child was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. Results The child, a 1-year-old male, had manifested with slightly short stature (Z = -2.03), midfacial dysplasia, and multiple skeletal dysplasia such as pectus carinatum, irregular vertebral morphology, and defect of lumbar anterior bones. His mother, maternal grandmother and great-maternal grandfather also had short stature. WES revealed that the child has harbored a heterozygous c. 2858dupA (p.Asp953GlufsTer476) frameshifting variant of the ACAN gene, which was inherited from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 2858dup (p.Sp953Glufster476) variant was classified as likely pathogenic (PVS1+ PM2_Supporting). The patient has shown marked improved height after receiving 11 months of treatment with human recombinant growth hormone (supplemental dose) starting from 20 months of age. Conclusion The ACAN: c. 2858dup (p.Asp953GlufsTer476) variant probably underlay the pathogenesis of short stature in this child.

    ACAN基因移码变异家族性矮小骨骼发育不良面中部发育不良鸡胸

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    SMC3基因变异致德朗热综合征1例胎儿的遗传学分析

    黄慧陈佩文冯倩刘娅...
    250-254页
    查看更多>>摘要：目的 对1例具有手部畸形的引产胎儿进行高通量测序，以明确其遗传学病因。 方法 选取2018年10月20日在湖北省妇幼保健院经超声确诊的1例手部发育异常的胎儿作为研究对象。收集孕妇的基本资料及影像学检查结果，采集引产胎儿的脐带组织以及孕妇夫妇的外周静脉血样，提取基因组DNA，进行拷贝数变异测序(CNV-seq)与家系全外显子组测序(trio-WES)，对检出的候选变异进行家系验证。 结果 孕30＋2周超声提示胎儿右手小，大拇指可显示，其余四指短缺，左手未见异常。CNV-seq未检出大于100 kb的拷贝数变异；trio-WES检测结果显示胎儿携带SMC3基因c.3298G>A(p.Val1100Met)杂合变异。该变异位点在正常人群数据库中未见收录，多个生物信息软件均预测为有害变异。多序列比对发现该位点在不同物种中高度保守。Sanger测序结果显示孕妇夫妇均未携带该变异，提示其为新发变异。根据美国医学遗传学与基因组学学会(ACMG)相关指南，判定该变异为可能致病性变异(PS2＋PM2_Supporting＋PP3)。 结论 SMC3基因c.3298G>A变异可能是上述胎儿具有手部畸形的遗传学病因，胎儿被诊断为德朗热综合征。 Objective To explore the genetic basis for a fetus featuring oligodactyly. Methods A fetus with hand deformity identified by ultrasound at the Maternal and Child Health Care Hospital of Hubei Province on October 20, 2018 was selected as the study subject. Clinical information and ultrasonographic finding of the pregnant woman were collected. Following elected abortion, umbilical cord and peripheral venous blood samples of the couple were collected for the extraction of genomic DNA. Copy number variation sequencing (CNV-seq) and trio-whole exome sequencing (trio-WES) were carried out. Candidate variants were verified by Sanger sequencing. Results Ultrasonographic examination at 30+ 2 weeks of gestation revealed that the fetus had small right hand with absence of 2nd ~ 5th fingers, whilst its left hand had appeared to be normal. By CNV-seq, no pathogenic or likely pathogenic copy number variation (CNV) (> 100 kb) was detected in the fetus. Trio-WES revealed that the fetus had harbored a novel heterozygous c.3298G>A (p.Val1100Met) variant of theSMC3 gene. The variant has not been recorded in the population databases, and was predicted to be deleterious by several bioinformatics software and evolutionarily conserved based on multiple sequence alignment analysis. Sanger sequencing showed that neither parent has carried the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS2+ PM2_Supporting+ PP3). Conclusion The fetus was diagnosed with Cornelia de Lange syndrome, for which the novel heterozygous c.3298G>A variant of theSMC3 gene may be accountable.

    CorneliadeLange综合征SMC3基因全外显子组测序Sanger测序

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    白化病伴肝功能不全1例患儿的遗传学分析

    康启超马盼盼郝胜菊徐福蓉...
    255-256页
    查看更多>>摘要：男，1岁，2022年1月发现肝功能不全1个月于甘肃省妇幼保健院进行入院观察治疗，体格检查为精神体征可，反应体征可，咽内无任何充血，心肺功未查到及有明显的阳性体征，无明显压痛、反跳痛，肠鸣音均可，神经系统症状未查明及未有明显精神异常，无恶心、呕吐，面部皮肤及头发呈白色；胎儿生化检查发现谷草转氨酶(aspartatetransaminase，AST)为252.8 U/L(参考值21～80 U/L)，谷丙转氨酶(alanine aminotransferase，ALT)608.8 U/L(参考值8～71 U/L)均明显升高，腹部彩色多普勒超声提示肝右叶体积略增大。胸腹CT提示：獭尾肝、腹主动脉旁及肠系膜根部多发小淋巴结。父母系非近亲婚配，否认有其家族性的遗传病史。本研究通过了甘肃省妇幼保健院伦理委员会的审查[(2021)GSFY伦审65号]，患儿监护人签署了临床研究知情同意书。抽取患儿血液样及患者父母外周血样本3 mL，进行基因测序。
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