患者存在 PAX6 基因突变的复合杂合性，表现为复杂脑畸形、新生儿糖尿病和小眼球。
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia.
机构信息
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
出版信息
Am J Med Genet A. 2009 Nov;149A(11):2543-6. doi: 10.1002/ajmg.a.33081.
Abstract
We report on a patient with trisomy 21, microophthalmia, neonatal diabetes mellitus, hypopituitarism, and a complex structural brain anomaly who was a member of a large bilineal family with eye anomalies. The patient inherited a different mutation in PAX6 from each parent and is the only known living and second reported patient with compound heterozygosity for mutations in PAX6. PAX6 is a transcription factor involved in eye and brain development and has roles in pancreatic and pituitary development. Clinical evaluation of the propositus and his parents demonstrated the effects of mutations of differing severity in multiple individuals.
摘要
我们报告了一例 21 三体综合征、小眼球、新生儿糖尿病、垂体功能减退和复杂结构脑异常的患者，该患者是一个具有眼部异常的大型双系家族的成员。该患者从父母双方遗传了不同的 PAX6 突变，是已知的唯一存活的、第二位报道的 PAX6 基因突变复合杂合子患者。PAX6 是一种参与眼睛和大脑发育的转录因子，在胰腺和垂体发育中也具有作用。对先证者及其父母的临床评估表明，多个个体中不同严重程度的突变具有不同的影响。
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