Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.
Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, New York, USA.
Am J Med Genet A. 2023 Jul;191(7):1935-1941. doi: 10.1002/ajmg.a.63203. Epub 2023 Apr 9.
Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this disorder include microcephaly, cognitive impairment, dysmorphic features, and variable ophthalmological anomalies including chorioretinopathy. Microcephaly can be recognized prenatally and visual impairment becomes evident during the first year of life. The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections; thus, it is important to recognize and diagnose this syndrome in view of its impact on patient health management and familial reproductive plans. To date, only seven molecularly confirmed patients from five unrelated families have been reported. We report an additional four unrelated patients with TUBGCP6 variants including one prenatal diagnosis and review the clinical phenotypes and genotypes of all the known cases. This report expands the molecular and phenotypic spectrum of TUBGCP6 and includes additional prenatal findings associated with MCCRP1.
常染色体隐性小头畸形伴脉络膜视网膜病变-1（MCCRP1）是一种罕见的孟德尔疾病，由微管-γ复合蛋白 6（TUBGCP6，MIM#610053）的双等位基因功能丧失变异引起。该疾病的临床特征包括小头畸形、认知障碍、发育异常和可变的眼科异常，包括脉络膜视网膜病变。小头畸形可在产前识别，视力损害在生命的第一年变得明显。临床表现类似于一些获得性疾病的发现，如先天性弓形体病和巨细胞病毒感染；因此，鉴于其对患者健康管理和家族生殖计划的影响，识别和诊断这种综合征非常重要。迄今为止，仅从五个无关家庭中报道了七个分子上确诊的患者。我们报告了另外四个无关的 TUBGCP6 变异患者，包括一个产前诊断，并回顾了所有已知病例的临床表型和基因型。本报告扩展了 TUBGCP6 的分子和表型谱，并包括与 MCCRP1 相关的额外产前发现。
