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首页> 外文期刊>American journal of medical genetics, Part A >Nonsense mutations in FZD2 FZD2 cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes
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Nonsense mutations in FZD2 FZD2 cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes

机译：FZD2 FZD2中的无意义突变导致常染色体占优势占多种胰腺量：Robinow综合征样表型

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摘要

Omodysplasia‐2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother). Here, we present the second report on a heterozygous novel nonsense FZD2 mutation in OMOD2 or Robinow syndrome‐like phenotype. The proband was a 16‐year‐old boy, who has been followed from infancy to adolescence. He presented with rhizomelic short stature with elbow restriction, mild facial dysmorphism (depressed broad bridge, short nose, anteverted nostrils, long philtrum, and low‐set ears), and genital hypoplasia. Radiological examination in infancy showed short, broad humeri with relatively narrow distal ends, mildly broad femora, thick proximal ulnae with hypoplastic, dislocated proximal radii, and short first metacarpals. The abnormal skeletal pattern was persistent in adolescence; however, the humeri and femora became less undermodeled, while the humeri and radii became mildly bowed. Molecular analysis identified a de novo, heterozygous, nonsense mutation (c.1640CA, p.S547*) in FZD2 . The affected codon was next to the previously reported mutation (p.Trp548*). The results indicate that OMOD2 or Robinow syndome‐like phenotype can be caused by a heterozygous nonsense FZD2 mutation impairing Wnt signaling. Further molecular studies will permit better clarification of the phenotypic spectrum in patients with OMOD2.
机译：Omodysplasia-2（OMOD2; OMIM％16475）是一种罕见的常血剂占优势（AD）骨骼发育不良，其特征在于休谟缩短，短的第一个梅曲，颅面疑难术（额头凸起，抑郁的鼻桥，双歧鼻尖和长腓特），以及变量泌尿生殖器学异常程度。这种临床表型与广告型RobInow综合征的相反重叠。最近，在具有广告oomodysplasia（受影响的女孩和她受影响的母亲）的家庭中已经鉴定了编码Frizzled类受体2的FZD2中的突变。在这里，我们提出了关于omod2或robinow综合征样表型在omode2中的杂合新型fzd2突变的第二个报告。概念是一个16岁的男孩，他们被临时到青春期。他用肘部限制，温和的面部虚张声道（抑郁的阔桥，短鼻子，可爱的鼻孔，长腓声，耳朵）以及生殖器发育不全的根茎。婴儿期的放射学检查显示短，广阔的悍马，远端相对窄，股骨温和，厚度近底溃疡，伴有软骨，脱臼的近端半径和短的第一代术。异常骨骼模式在青春期持续存在;然而，哈默和股骨变得较小，而悍马和半径变得温和地鞠躬。分子分析鉴定了FZD2中的DE Novo，杂合，非致突变（C.1640C＆GT; A，P.S547 *）。受影响的密码子在先前报告的突变旁边（p.trp548 *）。结果表明，OMOD2或Robinow Synvome样表型可以是由杂合的非阵线FZD2突变损害WNT信号传导引起的。进一步的分子研究将允许更好地阐明omod2患者的表型谱。

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