Abstract：
UNASSIGNED: Microcephaly and chorioretinopathy (MCCRP) is a rare autosomal recessive (AR) disorder characterized by microcephaly, developmental delay, chorioretinopathy, and visual impairment. We characterized the long-term phenotype of an additional patient with MCCRP associated with TUBCGP4 pathogenic variants and analysed previously reported cases in the literature.
UNASSIGNED: Analysis of clinical and genetic data of a patient with TUBGCP4-related MCCRP followed for more than 19 years and literature search for previously reported patients with TUBCGP4 variants using PubMed, Scopus, and Google Scholar.
UNASSIGNED: Molecular diagnosis using exome sequencing demonstrated two TUBCGP4 variants in trans: c.1669C>T (p.Arg557*) and c.1746 G>T (p.Leu582=). Clinical characteristics included microcephaly, microphthalmia, punched-out chorioretinal lesions, vision impairment, nystagmus, Tetralogy of Fallot and neurodevelopmental delay. Another six previously reported cases of TUBCGP4-related MCCRP were identified. Their clinical and genetic characteristics are compared.
UNASSIGNED: TUBCGP4-related microcephaly and chorioretinopathy, is a rare autosomal recessive neuro-ophthalmic disorder. Clinical characteristics in our proband have remained stable for two decades. The pathophysiology of this syndrome is not yet fully understood.
UNASSIGNED: Analysis of clinical and genetic data of a patient with TUBGCP4-related MCCRP followed for more than 19 years and literature search for previously reported patients with TUBCGP4 variants using PubMed, Scopus, and Google Scholar.
UNASSIGNED: Molecular diagnosis using exome sequencing demonstrated two TUBCGP4 variants in trans: c.1669C>T (p.Arg557*) and c.1746 G>T (p.Leu582=). Clinical characteristics included microcephaly, microphthalmia, punched-out chorioretinal lesions, vision impairment, nystagmus, Tetralogy of Fallot and neurodevelopmental delay. Another six previously reported cases of TUBCGP4-related MCCRP were identified. Their clinical and genetic characteristics are compared.
UNASSIGNED: TUBCGP4-related microcephaly and chorioretinopathy, is a rare autosomal recessive neuro-ophthalmic disorder. Clinical characteristics in our proband have remained stable for two decades. The pathophysiology of this syndrome is not yet fully understood.
摘要：
■小头症和脉络膜视网膜病变（MCCRP）是一种罕见的常染色体隐性（AR）疾病，以小头症为特征，发育迟缓,脉络膜视网膜病变,和视力障碍。我们表征了另一位MCCRP与TUBCGP4致病变异相关的患者的长期表型，并分析了文献中先前报道的病例。
分析患有TUBGCP4相关MCCRP的患者的临床和遗传数据超过19年，并使用PubMed对先前报道的TUBCGP4变异患者进行文献搜索，Scopus,谷歌学者。
■使用外显子组测序进行的分子诊断证明了两种反式TUBCGP4变体：c.1669C>T（p。Arg557*）和c.1746G>T（p。Leu582=)。临床特征包括小头畸形，小眼症,穿孔的脉络膜视网膜病变,视力障碍,眼球震颤,法洛四联症与神经发育迟缓。确定了另外6例先前报告的TUBCGP4相关MCCRP病例。比较了它们的临床和遗传特征。
■TUBCGP4相关小头症和脉络膜视网膜病变，是一种罕见的常染色体隐性神经眼科疾病。我们先证者的临床特征已经稳定了二十年。该综合征的病理生理学尚未完全了解。
分析患有TUBGCP4相关MCCRP的患者的临床和遗传数据超过19年，并使用PubMed对先前报道的TUBCGP4变异患者进行文献搜索，Scopus,谷歌学者。
■使用外显子组测序进行的分子诊断证明了两种反式TUBCGP4变体：c.1669C>T（p。Arg557*）和c.1746G>T（p。Leu582=)。临床特征包括小头畸形，小眼症,穿孔的脉络膜视网膜病变,视力障碍,眼球震颤,法洛四联症与神经发育迟缓。确定了另外6例先前报告的TUBCGP4相关MCCRP病例。比较了它们的临床和遗传特征。
■TUBCGP4相关小头症和脉络膜视网膜病变，是一种罕见的常染色体隐性神经眼科疾病。我们先证者的临床特征已经稳定了二十年。该综合征的病理生理学尚未完全了解。
