Togawa Hiroko, Nakanishi Koichi, Mukaiyama Hironobu, Hama Taketsugu, Shima Yuko, Nakano Masaru, Fujita Naoya, Iijima Kazumoto, Yoshikawa Norishige
Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
Pediatr Int. 2013 Apr;55(2):229-31. doi: 10.1111/j.1442-200X.2012.03629.x.
Pierson syndrome (OMIM 609049) is typically characterized by congenital nephritic syndrome and peculiar ocular anomalies with microcoria. It is caused by mutations in LAMB2, which encodes laminin β2. Approximately 50 mutations of LAMB2 from approximately 40 unrelated families have been identified; however, most of them were from Western countries. Although three patients in Asia with mutations of LAMB2 have been reported, they were not typical cases. We report the first Japanese case of Pierson syndrome with proven causative LAMB2 mutations. She presented with congenital nephrotic syndrome and bilateral microcoria at birth, and developed end-stage renal disease at 2 months of age. This is the first report of a typical case from Asia. LAMB2 analysis by direct sequencing revealed the compound heterozygous mutations c.3974_3975insA (p.N1325KfsX1331, maternal, novel) in exon 25 and c.4519C>T (p.Q1507X, paternal) in exon 27. The phenotype due to LAMB2 mutations appears to be similar between different ethnic groups.
皮尔逊综合征（OMIM 609049）的典型特征是先天性肾病综合征以及伴有小瞳孔的特殊眼部异常。它由编码层粘连蛋白β2的LAMB2基因突变引起。已从约40个无关家族中鉴定出约50种LAMB2突变；然而，其中大多数来自西方国家。虽然已报道了3例亚洲LAMB2基因突变患者，但他们并非典型病例。我们报告了首例经证实有致病LAMB2突变的日本皮尔逊综合征病例。她出生时即患有先天性肾病综合征和双侧小瞳孔，并在2个月大时发展为终末期肾病。这是亚洲典型病例的首例报告。直接测序进行的LAMB2分析显示，外显子25存在复合杂合突变c.3974_3975insA（p.N1325KfsX1331，来自母亲，为新突变），外显子27存在c.4519C>T（p.Q1507X，来自父亲）。不同种族群体中，由LAMB2突变引起的表型似乎相似。
