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目的探讨X连锁遗传性脑积水的L1CAM基因突变检测和产前诊断的可行性。方法应用PCR-直接序列测定法对一个X连锁遗传性脑积水家系进行L1CAM基因突变分析,并对孕妇进行了产前诊断。结果该家系先证者在L1CAM基因外显子28存在c.3581C>T(p.S1194L)致病突变,患者的姐姐和母亲均为携带者,姨和表妹均未检测到该致病突变。对携带有该基因突变的姐姐先后进行了3次产前基因诊断(包括1例羊水检测,1例双胎羊水检测,1例绒毛检测),均证实为获得致病突变的男性胎儿。结论对于B超发现的男性脑积水胎儿,可以对其进行L1CAM基因突变筛查,有助于对下次妊娠的复发风险或携带者的妊娠风险进行评估;对携带突变基因的孕妇进行产前诊断,避免患儿的出生。
Objective To investigate the detection of L1CAM gene mutation and the feasibility of prenatal diagnosis in X-linked hereditary hydrocephalus. Methods The mutation of L1CAM gene in a pedigree of X-linked hereditary hydrocephalus was analyzed by PCR-direct sequencing and prenatal diagnosis of pregnant women. Results There was c.3581C> T (p.S1194L) pathogenicity mutation in exon 28 of L1CAM gene in this pedigree. The sister and mother were all carriers of the L1 progenitor family, and no pathogenic mutation was detected in both aunt and cousin. Three prenatal genetic diagnoses (including one case of amniotic fluid test, one case of dual amniotic fluid test, and one case of villus test) were carried out on the elder sister carrying the gene mutation, all confirmed to be male fetuses with pathogenic mutation. Conclusions For fetus with hydrocephalus discovered in B-ultrasound, L1CAM gene mutations can be screened for the risk of recurrence in the next pregnancy or the risk of pregnancy in the fetus. Pregnant women carrying the mutated gene may have prenatal Diagnosis, to avoid the birth of children.