摘要
目的对一个婴儿恶性石骨症家系进行遗传学分析,明确遗传学病因,并对该家系中的1个高危胎儿进行产前诊断。方法对先证者及其父母行二代测序查找可疑致病性基因变异,应用Sanger测序验证该变异,并明确同患病的先证者妹妹的基因型,以及该家系高危胎儿的基因型。结果该家系先证者及其妹妹存在TCIRG1基因致病性复合杂合变异c.[1213G>A];[1555-2A>C],其中c.1213G>A杂合变异遗传自先证者母亲,c.1555-2A>C杂合变异遗传自先证者父亲。产前诊断结果提示胎儿携带父源性c.1555-2A>C杂合变异,不携带母源性变异。结论TCIRG1基因复合杂合变异c.[1213G>A];[1555-2A>C]可能是该家系婴儿恶性石骨症的致病原因。准确的遗传学分析为该家系进行遗传咨询和产前诊断提供了可靠依据。
Objective To investigate the possible genetic etiology of a pedigree with infantile malignant osteopetrosis,and to provide prenatal diagnosis for a high-risk fetus.Methods Next-generation sequencing was performed to find the suspected pathogenic variants of the proband and his parents.Sanger sequencing was used to verify the variants,and to confirm the genotype of the suffered sister of the proband and the genotype of a high-risk fetus.Results Pathogenic compound heterozygous variants c.[1213G>A];[1555-2A>C]of TCIRG1 gene were found in the proband and his sister,and c.1213G>A was inherited from the mother and c.1555-2A>C was inherited from the father.Prenatal diagnosis results showed that the fetus carried the paternal heterozygous variant c.1555-2A>C,but did not carry the maternal variant.Conclusion Compound heterozygous variants c.[1213G>A];[1555-2A>C]of TCIRG1 gene might be the genetic etiology of infantile malignant osteopetrosis in this pedigree.Accurate genetic analysis provided reliable basis for genetic counseling and prenatal diagnosis of this pedigree.
作者
余秀蓉
王志红
YU Xiurong;WANG Zhihong(Department of Blood Transfusion,Clinical Oncology School of Fujian Medical University,Fujian Cancer Hospital,Fuzhou,Fujian 350014,China;Laboratory of Basic Medicine,Fuzong Clinical College of Fujian Medical University,900TH Hospital of Joint Logistics Support Force,Fuzhou,Fujian,350025,China)
出处
《中国优生与遗传杂志》
2023年第6期1250-1253,共4页
Chinese Journal of Birth Health & Heredity
基金
福建省自然科学基金(2018J01348)。
关键词
婴儿恶性石骨症
TCIRG1基因
二代测序
产前诊断
infantile malignant osteopetrosis
TCIRG1 gene
next generation sequencing
prenatal diagnosis
