Aydin B, Ipek M S, Ozaltin F, Zenciroğlu A, Dilli D, Beken S, Okumuş N, Hoşağasi N, Saygili-Karagöl B, Kundak A, Renda R, Aydog O
Departmentof Neonatology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey.
Genet Couns. 2013;24(2):141-7.
Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. In this article, we report on a patient with CNS, bilateral megalocornea and microcoria. The patient had developed renal failure at very early postnatal period and died of septic shock. A novel homozygous donor splice mutation (IVS4 + 2T > C) in LAMB2 gene was identified in the patient.
皮尔逊综合征是一种罕见的常染色体隐性疾病，主要特征为先天性肾病综合征（CNS）、弥漫性系膜硬化（DMS）以及包括小角膜在内的明显眼部异常。大多数患病儿童表现出慢性肾衰竭、神经发育缺陷和失明的早发症状。它是由位于3号染色体p21区域的层粘连蛋白β2（LAMB2）编码基因的纯合或复合杂合突变引起的。在本文中，我们报告了一名患有CNS、双侧巨角膜和小角膜的患者。该患者在出生后早期就出现了肾衰竭，并死于感染性休克。在该患者中鉴定出了LAMB2基因一个新的纯合供体剪接突变（IVS4 + 2T > C）。
