PDF(Pubmed)
Abstract：
UNASSIGNED: Acromelic dysplasia caused by FBN1 mutation includes acromicric dysplasia (AD), geleophysic dysplasia 2 (GD2), and Weill-Marchesani syndrome 2 (WMS2). All three diseases share severe short stature and brachydactyly. Besides phenotypic similarity, there is a molecular genetic overlap among them, as identical FBN1 gene mutations have been identified in patients with AD, GD2, and WMS2. However, no family with different acromelic dysplasia phenotypes due to the same variant has been described in English reports.
UNASSIGNED: The proband presented with typical facial features, severe short stature, short limbs, stubby hands and feet and radiological abnormalities. Her elder sister and mother had similar physical features. In addition, her elder sister was found to have aortic valve stenosis by echocardiography. Mutation analysis demonstrated a heterozygous missense mutation, c.5179C>T (p.Arg1727Trp) in exon 42 of the FBN1. The proband and her mother were diagnosed with AD, and her elder sister with GD2. The proband was treated with recombinant human growth hormone (rhGH) and had a body length gain of 0.72 SDS in half a year.
UNASSIGNED: These findings expand the phenotypic spectrum of FBN1 gene mutations and highlight that identical FBN1 genotypes can result in different phenotypes of acromelic dysplasia in a family. The efficacy of rhGH therapy in patients with acromelic dysplasia is controversial. More follow-up is needed on the long-term efficacy of rhGH therapy.
UNASSIGNED: The proband presented with typical facial features, severe short stature, short limbs, stubby hands and feet and radiological abnormalities. Her elder sister and mother had similar physical features. In addition, her elder sister was found to have aortic valve stenosis by echocardiography. Mutation analysis demonstrated a heterozygous missense mutation, c.5179C>T (p.Arg1727Trp) in exon 42 of the FBN1. The proband and her mother were diagnosed with AD, and her elder sister with GD2. The proband was treated with recombinant human growth hormone (rhGH) and had a body length gain of 0.72 SDS in half a year.
UNASSIGNED: These findings expand the phenotypic spectrum of FBN1 gene mutations and highlight that identical FBN1 genotypes can result in different phenotypes of acromelic dysplasia in a family. The efficacy of rhGH therapy in patients with acromelic dysplasia is controversial. More follow-up is needed on the long-term efficacy of rhGH therapy.
摘要：
■由FBN1突变引起的肢端发育不良包括肢端发育不良（AD），脑发育不良2（GD2），和Weill-Marchesani综合征2（WMS2）。这三种疾病都有严重的身材矮小和短指。除了表型相似性，它们之间存在分子遗传重叠，已经在AD患者中发现了相同的FBN1基因突变，GD2和WMS2。然而,英文报道中没有描述由于相同变异而导致不同肢端发育不良表型的家族.
■具有典型面部特征的先证者，严重身材矮小，四肢短,粗短的手脚和放射学异常。她的姐姐和母亲的身体特征相似。此外,她的姐姐通过超声心动图发现主动脉瓣狭窄。突变分析表明杂合错义突变，c.5179C>T（p。FBN1的外显子42中的Arg1727Trp）。先证者和她的母亲被诊断出患有AD，和她的姐姐GD2。先证者用重组人生长激素（rhGH）处理，半年体长增加0.72SDS。
■这些发现扩大了FBN1基因突变的表型谱，并强调了相同的FBN1基因型可以导致一个家庭中肢端发育不良的不同表型。rhGH治疗对肢端发育不良患者的疗效存在争议。rhGH治疗的长期疗效需要更多的随访。
■具有典型面部特征的先证者，严重身材矮小，四肢短,粗短的手脚和放射学异常。她的姐姐和母亲的身体特征相似。此外,她的姐姐通过超声心动图发现主动脉瓣狭窄。突变分析表明杂合错义突变，c.5179C>T（p。FBN1的外显子42中的Arg1727Trp）。先证者和她的母亲被诊断出患有AD，和她的姐姐GD2。先证者用重组人生长激素（rhGH）处理，半年体长增加0.72SDS。
■这些发现扩大了FBN1基因突变的表型谱，并强调了相同的FBN1基因型可以导致一个家庭中肢端发育不良的不同表型。rhGH治疗对肢端发育不良患者的疗效存在争议。rhGH治疗的长期疗效需要更多的随访。
