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Abstract：
Diamond-Blackfan anemia (DBA), a congenital pure red cell aplasia (PRCA), is characterized by normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. DBA10, a subset of DBA, is an autosomal dominant disease caused by a mutation in RPS26. So far, there are 30 disease-causing variants in RPS26 being reported, however, only three of them are small insert mutations.
Here we report a three-month Chinese boy who presents with anemia from postnatal day 2. He was suspected to have Diamond-Blackfan anemia, according to the clinical result. Thus, whole-exome sequencing was performed for precise diagnosis.
Here, a novel insert mutation c.96dupG in RPS26 was identified by whole-exome sequencing, which caused neonatal DBA in a Chinese boy. This is the first case report of a Chinese DBA10 patient who carries a small insertion in the RPS26 gene. These findings expand the mutation diversity of RPS26 and demonstrate the clinical presentations of the Chinese DBA10 patient.
Here we report a three-month Chinese boy who presents with anemia from postnatal day 2. He was suspected to have Diamond-Blackfan anemia, according to the clinical result. Thus, whole-exome sequencing was performed for precise diagnosis.
Here, a novel insert mutation c.96dupG in RPS26 was identified by whole-exome sequencing, which caused neonatal DBA in a Chinese boy. This is the first case report of a Chinese DBA10 patient who carries a small insertion in the RPS26 gene. These findings expand the mutation diversity of RPS26 and demonstrate the clinical presentations of the Chinese DBA10 patient.
摘要：
Diamond-Blackfan贫血(DBA),先天性纯红细胞发育不全（PRCA），以正常色素性大细胞性贫血为特征，网织红细胞减少症,骨髓中几乎没有红系祖细胞。DBA10，DBA的一个子集，是由RPS26突变引起的常染色体显性疾病。到目前为止,据报道，RPS26中有30种致病变异，然而,其中只有三个是小插入突变。
这里我们报道了一个三个月的中国男孩，他从出生后第2天开始出现贫血。他被怀疑患有Diamond-Blackfan贫血,根据临床结果。因此，为了精确诊断,我们进行了全外显子组测序.
这里,通过全外显子组测序鉴定了RPS26中的一个新的插入突变c.96dupG，这导致了一个中国男孩的新生儿DBA。这是中国DBA10患者的首例报道，该患者在RPS26基因中携带少量插入。这些发现扩大了RPS26的突变多样性，并证明了中国DBA10患者的临床表现。
这里我们报道了一个三个月的中国男孩，他从出生后第2天开始出现贫血。他被怀疑患有Diamond-Blackfan贫血,根据临床结果。因此，为了精确诊断,我们进行了全外显子组测序.
这里,通过全外显子组测序鉴定了RPS26中的一个新的插入突变c.96dupG，这导致了一个中国男孩的新生儿DBA。这是中国DBA10患者的首例报道，该患者在RPS26基因中携带少量插入。这些发现扩大了RPS26的突变多样性，并证明了中国DBA10患者的临床表现。
