1例母源性单亲二倍体所致Rothmund-Thomson综合征  

A case of Rothmund-Thomson syndrome due to uniparental diploidy of maternal origin

作　　者：慕佳霖 孙萌 李育霖 李盼盼 王晶鋆 邹卉[1] MU Jialin;SUN Meng;LI Yulin;LI Panpan;WANG Jingyun;ZOU Hui(Department of Neonatal Disease Screening Centre,Jinan Maternity and Child Care Hospital,Jinan,Shandong 250001,China)

机构地区：[1]济南市妇幼保健院新生儿疾病筛查中心,山东济南250001

出　　处：《中国优生与遗传杂志》2024年第5期1040-1043,共4页Chinese Journal of Birth Health & Heredity

基　　金：国家重点研发计划(2021YFC1005300);济南市临床医学科技创新计划(202225012)。

摘　　要：目的对1例诊断母源性单亲二倍体所致Rothmund-Thomson综合征2型(RTS2)患儿进行临床资料总结及遗传学分析,加强临床医师对该病的认识。方法采集患儿及其父母外周血样本,行全外显子组测序并Sanger测序验证,对患儿行染色体微阵列(CMA)检测染色体片段拷贝数变异。结果患儿基因检测结果显示RECQL4基因c.1704+2T>C纯合变异,为新报道位点,Sanger验证患儿母亲存在该位点变异,患儿父亲为野生型;进一步完善CMA分析显示arr[GRCh37](8)x2hmz,患儿8号染色体为母源性二倍体,结合患儿临床表现,最终诊断母源性单亲二倍体Rothmund-Thomson综合征2型。结论本文报道1例全外显子组测序联合CMA检测诊断母源性单亲二倍体RTS2型的患儿。一过性免疫低下可能是RTS患者生命早期的临床表现,需要引起临床医师关注。Objective To summarize the clinical data and genetic analysis of a case of Rothmund-Thomson syndrome type 2 diagnosed with maternal uniparental diploid,and to strengthen the understanding of the disease among clinicians.Methods Peripheral blood samples were collected from the infant and her parents,and whole exome genetic testing was performed and verified by Sanger sequencing.Chromosome microarray analysis(CMA)was performed to detect chromosome segment copy number variations in the infant.Results The genetic testing revealed a c.1704+2T>C homozygous mutation in the RECQL4 gene,which was a newly reported locus.Sanger confirmed that the child's mother had the mutation in this locus and the child's father was wild type.Further refinement of the CMA analysis showed that arr[GRCh37](8)x2 hmz and that the patient's chromosome 8 was a maternally derived diploid,which combined with the patient's clinical manifestations,led to the final diagnosis of maternal uniparental diploidy.The final diagnosis was maternal uniparental diploid Rothmund-Thomson syndrome type 2.Conclusion All-exon testing combined with CMA testing resulted in the diagnosis of a child with maternal uniparental diploid RTS type 2.Transient immunocompromise may be an early clinical manifestation in patients with RTS and needs to be brought to the attention of clinicians.

关 键 词：ROTHMUND-THOMSON综合征 RECQL4基因 基因突变 染色体微阵列分析 

分 类 号：R725.9[医药卫生—儿科]