Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
复制标题
推测SOX2促性腺嵌合体的临床诊断。
DOI：
10.1080/13816810.2021.1888127
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发表时间：
2021-06
影响因子：
1.2
通讯作者：
Brooks BP
中科院分区：
文献类型：
--
作者：
Daich Varela M;Hufnagel RB;Guan B;Blain D;Sapp JC;Gropman AL;Alur R;Johnston JJ;Biesecker LG;Brooks BP
描述一个先证者母亲的眼科检查诊断为SOX2性腺马赛克症的家系。这家人接受了全面的眼科和身体检查。对血液和唾液样本的外周血白细胞DNA进行三外显子分析进行变异检测。使用定制的面板NGS测序进行变异分离分析。通过Sanger测序，在先证者中确认了SOX2基因中的一个变异。我们报告一例双侧小眼球、发育迟缓、听力丧失和畸形特征的患者。她的母亲被发现有无症状的葡萄膜裂孔，影响她的眼前段。她的父亲、阿姨和姐妹们都没有受到影响。三个外显子序列分析显示，先证者NM_003106.3：C.70_89del，NP_003097.1：p(Asn24Argfs*65)存在明显的从头杂合性缺失，被归类为致病。对其他家庭成员的外周血液和唾液的检测结果为阴性。先证者母亲的虹膜透照异常支持性腺体嵌合体的情况。来自这个家庭的结果强调了对明显零星感染的遗传性眼科疾病患者的父母进行详细评估的重要性。确定受轻微影响的个体可以极大地改变复发风险。
To describe a family with presumed SOX2 gonadosomatic mosaicism diagnosed upon ophthalmic examination of the proband’s mother. The family underwent comprehensive ophthalmic and physical examination. Variant detection was performed using trio exome analysis on peripheral leukocyte DNA from blood and saliva samples. Variant segregation analysis was performed using a custom panel NGS sequencing. An identified variant in the SOX2 gene was confirmed in the proband by Sanger sequencing. We report an individual with bilateral microphthalmia, developmental delay, hearing loss, and dysmorphic features. Her mother was found to have asymptomatic forme fruste uveal coloboma affecting her anterior segment. Her father, aunt, and sisters were unaffected. Trio exome sequence analysis showed an apparent de novo heterozygous deletion in the proband, NM_003106.3:c.70_89del, NP_003097.1:p. (Asn24Argfs*65), classified as pathogenic. Testing of the other family members’ peripheral blood and saliva was negative for this variant. The iris transillumination abnormalities in the proband’s mother supports a gonadosomatic mosaicism scenario. The results from this family underscore the importance of performing detailed evaluations of the parents of apparently sporadically affected individuals with heritable ophthalmic disorders. The identification of mildly affected individuals could substantially alter recurrence risks.
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影响因子：
9.8
作者：
Johnston, Jennifer J.;Sanchez-Contreras, Monica Y.;Biesecker, Leslie G.
通讯作者：
Biesecker, Leslie G.
影响因子：
4.6
作者：
Prasov L;Guan B;Ullah E;Archer SM;Ayres BM;Besirli CG;Wiinikka-Buesser L;Comer GM;Del Monte MA;Elner SG;Garnai SJ;Huryn LA;Johnson K;Kamat SS;Lieu P;Mian SI;Rygiel CA;Serpen JY;Pawar HS;Brooks BP;Moroi SE;Richards JE;Hufnagel RB
通讯作者：
Hufnagel RB
影响因子：
1.8
作者：
Vogt, G;Puhó, E;Czeizel, AE
通讯作者：
Czeizel, AE
影响因子：
30.8
作者：
Fantes, J;Ragge, NK;FitzPatrick, DR
通讯作者：
FitzPatrick, DR
影响因子：
2
作者：
Doane, John F.;Rickstrew, Jace J.;Cauble, Jae E.
通讯作者：
Cauble, Jae E.