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Abstract：
BACKGROUND: Primrose syndrome is an autosomal dominant disorder characterized by craniofacial dysmorphism, mental retardation, developmental delay, progressive muscle atrophy and calcification of the earlobe due to a mutation in the ZBTB20.
METHODS: We reported a case of a Chinese boy with clinical symptoms resembling Primrose Syndrome, and performed genetic etiology analysis of the proband\'s family through Trio whole exome sequencing.
RESULTS: A novel missense variant c.1927T>A(p.F643I) in exon 14 of the ZBTB20 (NM_001348803) was identified in the proband. This is the first report case of primrose syndrome in China, and our case extends the variant spectrum of ZBTB20 and further strengthens the understanding of primrose syndrome.
CONCLUSIONS: However, there are no formal clinical guidelines for the management of this disease, and research on treatment and prognosis remains a challenge and focus in future.
METHODS: We reported a case of a Chinese boy with clinical symptoms resembling Primrose Syndrome, and performed genetic etiology analysis of the proband\'s family through Trio whole exome sequencing.
RESULTS: A novel missense variant c.1927T>A(p.F643I) in exon 14 of the ZBTB20 (NM_001348803) was identified in the proband. This is the first report case of primrose syndrome in China, and our case extends the variant spectrum of ZBTB20 and further strengthens the understanding of primrose syndrome.
CONCLUSIONS: However, there are no formal clinical guidelines for the management of this disease, and research on treatment and prognosis remains a challenge and focus in future.
摘要：
背景：报春花综合征是一种常染色体显性疾病，其特征是颅面畸形，智力迟钝,发育迟缓,ZBTB20突变引起的进行性肌肉萎缩和耳垂钙化。
方法：我们报道一例临床症状类似于报春花综合征的中国男孩，并通过Trio全外显子组测序对先证者家族进行了遗传学病因分析。
结果：一个新的错义变体c.1927T>A（p。在先证中鉴定了ZBTB20(NM_001348803)外显子14中的F643I)。这是我国首例报春花综合征病例,我们的病例扩展了ZBTB20的变异谱，进一步加强了对报春花综合征的认识。
结论：然而，没有正式的临床指南来管理这种疾病，治疗和预后的研究仍然是未来的挑战和重点。
方法：我们报道一例临床症状类似于报春花综合征的中国男孩，并通过Trio全外显子组测序对先证者家族进行了遗传学病因分析。
结果：一个新的错义变体c.1927T>A（p。在先证中鉴定了ZBTB20(NM_001348803)外显子14中的F643I)。这是我国首例报春花综合征病例,我们的病例扩展了ZBTB20的变异谱，进一步加强了对报春花综合征的认识。
结论：然而，没有正式的临床指南来管理这种疾病，治疗和预后的研究仍然是未来的挑战和重点。
