A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
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DOI：
10.1111/ahg.12233
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发表时间：
2018-05
影响因子：
1.9
通讯作者：
Ahmad W
中科院分区：
文献类型：
--
作者：
Ullah A;Umair M;Muhammad D;Bilal M;Lee K;Leal SM;Ahmad W
顶中胚髓发育不良是一组遗传异质性的骨骼疾病，以身材矮小、四肢软化症和软骨症为特征。顶端中胚层发育不良以常染色体隐性遗传方式分离，由三个基因(NPR2、GDF5和BMPR1B)的双等位序列变异引起。对一个巴基斯坦血缘的分离顶中胚髓发育不良亚型Hunter-Thompson的家系进行了临床和遗传学评估。微卫星标记的基因分型和连锁分析显示，在染色体4q22.3上有一个7.78Mb的纯合区，该区域含有BMPR1B。对该基因的序列分析发现了一个新的纯合错义变异(c.1190T>；G，p.Met397Arg)，它与疾病表型分离，并与疾病表型的对数优势分数(LOD)为3.9。本研究报告首例顶端中脑发育不良Hunter-Thompson型家族性病例。这也是BMPR1B基因在顶端中胚髓发育不良Hunter-Thompson型病因中的首次报道。
Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (NPR2, GDF5, and BMPR1B). A consanguineous family of Pakistani origin segregating a subtype of acromesomelic dysplasia called Hunter–Thompson was clinically and genetically evaluated. Geno-typing of microsatellite markers and linkage analysis revealed a 7.78 Mb homozygous region on chromosome 4q22.3, which harbors BMPR1B. Sequence analysis of the gene revealed a novel homozygous missense variant (c.1190T > G, p.Met397Arg) that segregates with the disease phenotype within the family and produced a Logarithm of odds (LOD) score of 3.9 with the disease phenotype. This study reports on the first familial case of acromesomelic dysplasia Hunter–Thompson type. It is also the first report of BMPR1B underlying the etiology of acromesomelic dysplasia Hunter–Thompson type.
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影响因子：
2
作者：
Warman, Matthew L.;Cormier-Daire, Valerie;Hall, Christine;Krakow, Deborah;Lachman, Ralph;LeMerrer, Martine;Mortier, Geert;Mundlos, Stefan;Nishimura, Gen;Rimoin, David L.;Robertson, Stephen;Savarirayan, Ravi;Sillence, David;Spranger, Juergen;Unger, Sheila;Zabel, Bernhard;Superti-Furga, Andrea
通讯作者：
Superti-Furga, Andrea
影响因子：
9.8
作者：
Silberstein, M.;Tzemach, A.;Geiger, D.
通讯作者：
Geiger, D.
影响因子：
4.1
作者：
Ullah, A.;Raza, S. I.;Ahmad, W.
通讯作者：
Ahmad, W.
型BMPR1B突变会引起丙烯酸骨膜异常发育不良。
影响因子：
3.7
作者：
Stange K;Désir J;Kakar N;Mueller TD;Budde BS;Gordon CT;Horn D;Seemann P;Borck G
通讯作者：
Borck G
影响因子：
1.9
作者：
Irfanullah;Umair, Muhammad;Ahmad, Wasim
通讯作者：
Ahmad, Wasim