Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
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DOI：
10.1002/mgg3.1750
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发表时间：
2021-08
影响因子：
2
通讯作者：
Wang H
中科院分区：
文献类型：
--
作者：
Liu J;Liu Q;Yang S;Ma N;Pang J;Peng Y;Xi H;Jia Z;Luo Y;Jiang M;Teng Y;Yu W;Li Z;Wang H
GBS 1是一种罕见的X连锁隐性疾病，其特征是出生前和出生后过度生长和广泛的异常，包括颅面畸形，心脏缺陷，肾脏和生殖器异常。由于超声检查结果并不是该综合征的特征性表现，大多数SGBS 1的临床诊断都是在出生后进行的。一名孕妇与异常产前超声检查结果建议进行分子诊断。在胎儿中进行单核苷酸多态性阵列（SNP阵列），并使用多重连接依赖探针扩增（MLPA）和真实的实时定量PCR（qPCR）验证结果。产前超声检查显示胎儿13周时颈项增厚，21周时出现唇腭裂、心脏畸形、羊水指数增高及胎儿生长过快。通过SNP阵列检测到胎儿中覆盖GPC 3基因5′-UTR和外显子1的从头370 Kb-缺失，随后通过MLPA和qPCR证实。该家族的SGBS 1基因是由GPC 3的5′-UTR和外显子1的370 Kb半合子缺失引起的。超声检查与遗传学检查相结合，可有效地诊断SGBS 1的产前病例。我们的发现也扩大了GPC 3基因的突变谱。在本报告中，从13孕周的独特产前超声检查结果（如增加项透，唇腭裂，心脏缺陷和过度生长）导致分子诊断。单核苷酸多态性阵列（SNP array）显示了一个覆盖GPC 3基因5′-UTR和外显子1的370 Kb-从头缺失，并通过多重连接依赖探针扩增（MLPA）和真实的实时定量聚合酶链反应（qPCR）证实。超声检查与遗传学检查相结合，可有效地诊断中国大陆的SGBS 1产前病例。
Simpson–Golabi–Behmel syndrome type 1 (SGBS1) is a rare X‐linked recessive disorder characterized by pre‐ and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally. A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis. Single nucleotide polymorphism array (SNP array) was performed in the fetus, and the result was validated with multiplex ligation‐dependent probe amplification (MLPA) and real‐time quantitative PCR (qPCR). The prenatal sonographic presented with increased nuchal translucency at 13 gestational weeks, and later at 21 weeks with cleft lip and palate, heart defect, increased amniotic fluid index and over growth. A de novo 370Kb‐deletion covering the 5′‐UTR and exon 1 of GPC3 gene was detected in the fetus by SNP array, which was subsequently confirmed by MLPA and qPCR. The de novo 370Kb hemizygous deletion of 5′‐UTR and exon 1 of GPC3 results in the SGBS1 of this Chinese family. Combination of ultrasound and genetics tests helped us effectively to diagnose the prenatal cases of SGBS1. Our findings also enlarge the spectrum of mutations in GPC3 gene. In the present report, distinctive prenatal sonographic findings from 13 gestational weeks (such as increased nuchal translucency, cleft lip and palate, heart defect and over growth) led to molecular diagnosis. Single Nucleotide Polymorphism Array (SNP array) revealed a de novo 370Kb‐deletion covering the 5′‐UTR and exon 1 of GPC3 gene, which was confirmed by multiplex ligation‐dependent probe amplification (MLPA) and real‐time quantitative polymerase chain reaction (qPCR). Combination of ultrasound and genetics tests helped us effectively to diagnose the prenatal cases of SGBS1 in the mainland of China.
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影响因子：
3
作者：
Kehrer, Christina;Hoischen, Alexander;Gembruch, Ulrich
通讯作者：
Gembruch, Ulrich
DOI：
10.1002/ajmg.1320300130
发表时间：
1988-05-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
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通讯作者：
OPITZ, JM
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2
作者：
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通讯作者：
Lalatta, Faustina
影响因子：
1.6
作者：
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通讯作者：
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DOI：
10.1002/ajmg.c.31360
发表时间：
2013-05-01
影响因子：
3.1
作者：
Cottereau, Edouard;Mortemousque, Isabelle;Toutain, Annick
通讯作者：
Toutain, Annick