Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.
Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.
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DOI：
10.1186/s12920-022-01185-0
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发表时间：
2022-03-03
影响因子：
2.7
通讯作者：
He Y
中科院分区：
文献类型：
--
作者：
Sun H;Zhang S;Wang J;Zhou X;Zhang H;Yang H;He Y
Coffin-Siris综合征-8（CSS 8）是一种罕见的常染色体显性遗传疾病，由SMARCC 2变异引起，SMARCC 2是染色质重塑复合物BRG 1相关因子（BAF）的核心亚基。这种疾病的临床特征尚未完全确定，因为临床报告的罕见。BAF复合体在胚胎发生和心脏发育中起着至关重要的作用，并且编码BAF复合体组分的基因中的致病性变体与先天性心脏病（CHD）相关。然而，SMARCC 2的变异在CHD患者中尚未报道。一名28岁的孕妇在怀孕24周时被转诊进行产前超声心动图检查。超声心动图的结果是一致的产前超声诊断法乐四联症（TOF）。经过详细的咨询，这对夫妇决定终止妊娠并进行基因检测。进行三重（胎儿和父母）全外显子组测序（WES）和拷贝数变异测序（CNV-seq）。CNV-seq未发现染色体异常。WES分析显示SMARCC 2中存在致病性、从头杂合移码变体（NM_003075. 5：c.3561del，p.Leu1188fs）。鉴于SMARCC 2致病性变体的鉴定，考虑CSS 8的遗传诊断。我们报告了第一例SMARCC 2变异的产前病例。CHD的存在进一步拓宽了SMARCC 2相关疾病的表型谱。
Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core subunit of the chromatin-remodeling complex BRG1-associated factor (BAF). The clinical characteristics of this disorder have not been entirely determined because of the rarity of clinical reports. The BAF complex plays a crucial role in embryogenesis and cardiac development, and pathogenic variants in genes encoding the components of the BAF complex have been associated with congenital heart disease (CHD). However, variants in SMARCC2 have not been reported in patients with CHD. A 28-year-old primigravida was referred at 24 weeks gestation for prenatal echocardiography. The echocardiographic findings were consistent with a prenatal ultrasound diagnosis of tetralogy of Fallot (TOF). After detailed counseling, the couple decided to terminate the pregnancy and undergo genetic testing. A trio (fetus and the parents) whole-exome sequencing (WES) and copy number variation sequencing (CNV-seq) were performed. CNV-seq identified no chromosomal abnormalities. WES analysis revealed a pathogenic, de novo heterozygous frameshift variant in SMARCC2 (NM_003075.5: c.3561del, p.Leu1188fs). The genetic diagnosis of CSS8 was considered given the identification of the SMARCC2 pathogenic variant. We report the first prenatal case with the SMARCC2 variant. The presence of CHD further broadens the phenotypic spectrum of SMARCC2-related disease.
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影响因子：
7.1
作者：
Sun, H.;Yi, T.;He, Y.
通讯作者：
He, Y.
影响因子：
3
作者：
Best S;Wou K;Vora N;Van der Veyver IB;Wapner R;Chitty LS
通讯作者：
Chitty LS
影响因子：
3.7
作者：
Roberti, Domenico;Conforti, Renata;Perrotta, Silverio
通讯作者：
Perrotta, Silverio
DOI：
10.1002/ajmg.c.31407
发表时间：
2014-09-01
影响因子：
3.1
作者：
Kosho, Tomoki;Okamoto, Nobuhiko
通讯作者：
Okamoto, Nobuhiko
DOI：
10.1038/gim.2015.30
发表时间：
2015-05
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Richards S;Aziz N;Bale S;Bick D;Das S;Gastier-Foster J;Grody WW;Hegde M;Lyon E;Spector E;Voelkerding K;Rehm HL;ACMG Laboratory Quality Assurance Committee
通讯作者：
ACMG Laboratory Quality Assurance Committee