PDF(Pubmed)
Abstract：
UNASSIGNED: Harlequin ichthyosis (HI) is a severe rare genetic disease that mainly affects the skin. Neonates with this disease are born with thick skin and large diamond-shaped plates covering most of their bodies. Affected neonates lose the ability to control dehydration and regulate temperature and are more susceptible to infections. They also face respiratory failure and feeding problems. These clinical symptoms are factors associated with high mortality rates of neonates with HI. Until now, there are still no effective treatments for HI patients and most patients die in the newborn period. Mutation in the ABCA12 gene, which encodes an adenosine triphosphate-binding cassette (ABC) transporter, has been demonstrated as the major cause of HI.
UNASSIGNED: In this study, we report the case who is one infant that was born prematurely at 32 gestational weeks with the whole body covered with thick plate-like scales of skin. The infant was severely infected with mild edema, multiple cracked skins full of the body, yellow discharge, and necrosis of fingers and toes. The infant was suspected to be affected by HI. Whole exome sequencing (WES) was performed as a tool for detecting the novel mutation in one prematurely born Vietnam infant with HI phenotype. And after that, the mutation was confirmed by the Sanger sequencing method in the patient and the members of his family. In this case, one novel mutation c.6353C > G (p.S2118X, Hom) in the ABCA12 gene, was detected in the patient. The mutation has not been reported in any HI patients previously. This mutation was also found in a heterozygous state in the members of the patient\'s family, including his parents, an older brother, and an older sister who are no symptoms.
UNASSIGNED: In this study, we identified a novel mutation in a Vietnamese patient with HI by whole exome sequencing. The results for the patient and the members of his family will be helpful in understanding the etiology of the disease, diagnosing carriers, assisting in genetic counseling, and emphasizing the need for DNA-based prenatal screening for families with a history of the disease.
UNASSIGNED: In this study, we report the case who is one infant that was born prematurely at 32 gestational weeks with the whole body covered with thick plate-like scales of skin. The infant was severely infected with mild edema, multiple cracked skins full of the body, yellow discharge, and necrosis of fingers and toes. The infant was suspected to be affected by HI. Whole exome sequencing (WES) was performed as a tool for detecting the novel mutation in one prematurely born Vietnam infant with HI phenotype. And after that, the mutation was confirmed by the Sanger sequencing method in the patient and the members of his family. In this case, one novel mutation c.6353C > G (p.S2118X, Hom) in the ABCA12 gene, was detected in the patient. The mutation has not been reported in any HI patients previously. This mutation was also found in a heterozygous state in the members of the patient\'s family, including his parents, an older brother, and an older sister who are no symptoms.
UNASSIGNED: In this study, we identified a novel mutation in a Vietnamese patient with HI by whole exome sequencing. The results for the patient and the members of his family will be helpful in understanding the etiology of the disease, diagnosing carriers, assisting in genetic counseling, and emphasizing the need for DNA-based prenatal screening for families with a history of the disease.
摘要：
UNASSIGNED：丑角鱼鳞病（HI）是一种严重的罕见遗传病，主要影响皮肤。患有这种疾病的新生儿出生时皮肤厚实，大部分身体都覆盖着大的菱形板。受影响的新生儿失去控制脱水和调节温度的能力，更容易感染。他们还面临呼吸衰竭和喂养问题。这些临床症状是与HI新生儿高死亡率相关的因素。直到现在,对于HI患者仍没有有效的治疗方法，大多数患者在新生儿时期死亡。ABCA12基因突变，编码三磷酸腺苷结合盒（ABC）转运蛋白，已被证明是HI的主要原因。
未经批准：在这项研究中，我们报告的病例是一个婴儿，在32孕周早产，整个身体覆盖着厚厚的板状皮肤鳞屑。婴儿严重感染轻度水肿,全身有多个破裂的皮肤，黄色放电，手指和脚趾坏死。该婴儿被怀疑受到HI的影响。进行全外显子组测序（WES）作为检测一名具有HI表型的越南早产婴儿中的新突变的工具。在那之后,通过Sanger测序方法在患者及其家庭成员中确认突变.在这种情况下,一个新的突变c.6353C>G（p。S2118X,Hom）在ABCA12基因中，在病人身上发现。先前尚未在任何HI患者中报道该突变。这种突变也在患者家族成员的杂合状态中发现，包括他的父母,一个哥哥,还有一个没有症状的姐姐.
未经批准：在这项研究中，我们通过全外显子组测序在一名越南HI患者中发现了一个新的突变.对患者及其家庭成员的结果将有助于了解疾病的病因，诊断携带者，协助遗传咨询，并强调对有病史的家庭进行基于DNA的产前筛查的必要性。
未经批准：在这项研究中，我们报告的病例是一个婴儿，在32孕周早产，整个身体覆盖着厚厚的板状皮肤鳞屑。婴儿严重感染轻度水肿,全身有多个破裂的皮肤，黄色放电，手指和脚趾坏死。该婴儿被怀疑受到HI的影响。进行全外显子组测序（WES）作为检测一名具有HI表型的越南早产婴儿中的新突变的工具。在那之后,通过Sanger测序方法在患者及其家庭成员中确认突变.在这种情况下,一个新的突变c.6353C>G（p。S2118X,Hom）在ABCA12基因中，在病人身上发现。先前尚未在任何HI患者中报道该突变。这种突变也在患者家族成员的杂合状态中发现，包括他的父母,一个哥哥,还有一个没有症状的姐姐.
未经批准：在这项研究中，我们通过全外显子组测序在一名越南HI患者中发现了一个新的突变.对患者及其家庭成员的结果将有助于了解疾病的病因，诊断携带者，协助遗传咨询，并强调对有病史的家庭进行基于DNA的产前筛查的必要性。
