Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
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DOI：
10.1002/ajmg.a.32346
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发表时间：
2008-07-15
影响因子：
2
通讯作者：
Pignolo, R. J.
中科院分区：
文献类型：
--
作者：
Adegbite, N. S.;Xu, M.;Kaplan, F. S.;Shore, E. M.;Pignolo, R. J.
关键词：
进行性骨性异型（POH）是一种罕见的，残疾的异位骨化疾病（HO），从皮肤和皮下组织发展为深骨骼肌肉。 POH发生在缺乏奥尔布赖特遗传性骨营养不良（AHO）或激素抵抗的多种发育特征的情况下，这也与GNA失活有关。然而，还描述了偶尔患有AHO和假型甲状旁腺功能低下1A/C（php1a/c; AHO特征加激素耐药性）的患者。这项研究是为了定义POH和HO进行性疾病的诊断和突变谱，并将其与HO保持局限于皮肤和皮下组织的相关疾病区分开。我们审查了111名皮肤和皮下骨化的人的图表。评估了所有患者的八种特征：HO的发作年龄，HO的存在和位置，HO的深度，HO类型，HO的进展，AHO的特征，PTH抗性和GNA突变分析。我们发现，根据临床标准，POH和进行性HO综合征处于与骨骼外骨化有关的GNA灭活条件的表型频谱的严重末端。尽管大多数具有表面或进行性骨化的个体在GNA中都有突变，但没有特定的基因型 - 表型相关性将HO（例如POH）的渐进形式与非促进形式（Cutis Cutis，Aho和PHP1A/C和PHP1A/C骨）区分开来。 ）。
Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also associated with GNAS inactivation. However, occasional patients with AHO and pseudohypoparathyroidism 1a/c (PHP1a/c; AHO features plus hormone resistance) have also been described who have progressive HO. This study was undertaken to define the diagnostic and mutational spectrum of POH and progressive disorders of HO, and to distinguish them from related disorders in which HO remains confined to the skin and subcutaneous tissues. We reviewed the charts of 111 individuals who had cutaneous and subcutaneous ossification. All patients were assessed for eight characteristics: age of onset of HO, presence and location of HO, depth of HO, type of HO, progression of HO, features of AHO, PTH resistance, and GNAS mutation analysis. We found, based on clinical criteria that POH and progressive HO syndromes are at the severe end of a phenotypic spectrum of GNAS-inactivating conditions associated with extra-skeletal ossification. While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c).
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影响因子：
4.8
作者：
Farfel, Z;Iiri, T;Bourne, HR
通讯作者：
Bourne, HR
DOI：
10.1073/pnas.95.26.15475
发表时间：
1998-12-22
影响因子：
11.1
作者：
Hayward, BE;Moran, V;Bonthron, DT
通讯作者：
Bonthron, DT
影响因子：
3.2
作者：
Ahmed, SF;Dixon, PH;Thakker, RV
通讯作者：
Thakker, RV
影响因子：
30.8
作者：
Bastepe, M;Fröhlich, LF;Jüppner, H
通讯作者：
Jüppner, H
影响因子：
5.8
作者：
MIRIC, A;VECHIO, JD;LEVINE, MA
通讯作者：
LEVINE, MA