Craniofacial, dental, and molecular features of Pyle disease in a South African child.
Craniofacial, dental, and molecular features of Pyle disease in a South African child.
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DOI：
10.1038/s41405-022-00120-w
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发表时间：
2022-09-22
期刊：
影响因子：
3
通讯作者：
Wonkam, Ambroise
中科院分区：
文献类型：
--
作者：
Chetty, Manogari;Roomaney, Imaan;Oosterwyk, Chandre;Manyisa, Noluthando;Bope, Christian Domilongo;Agenbag, Gloudi;Wonkam, Ambroise
派尔病（PD）或家族性干骺端发育不良[OMIM 265900]是一种罕见的常染色体隐性疾病，可导致长骨干骺端增宽、皮质骨变薄和骨外翻。我们详细的口腔和分子研究结果在南非PD患者。患者接受了临床、影像学和分子学检查。使用扫描电子显微镜分析脱落的牙齿，并与对照牙齿进行比较。患者出现长骨和几个蠕虫骨的明显Erlenmeyer-flask畸形（EFD）。他的牙齿发育被推迟了大约三年。恒磨牙为中牛磺牙型。包括颌骨和颈椎在内的骨骼显示出退行性变化。硬脑膜缺失，髁突颈部缺乏正常收缩。离子成分分析的初级门牙发现镁的情况下。桑格测序结果显示SFRP 4内含子5中存在一种新的致病性变异体（c.855+4delAGTA）。这项研究首次报道了SFRP 4基因突变在非洲PD患者中的意义，并强调了牙科医生需要了解PD的特征和管理意义。
Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD. The patient underwent clinical, radiographic and molecular examinations. An exfoliated tooth was analysed using scanning electron microscopy and was compared to a control tooth. The patient presented with marked Erlenmeyer-flask deformity (EFD) of the long bones and several Wormian bones. His dental development was delayed by approximately three years. The permanent molars were mesotaurodontic. The bones, including the jaws and cervical vertebrae, showed osteoporotic changes. The lamina dura was absent, and the neck of the condyle lacked normal constrictions. Ionic component analysis of the primary incisors found an absence of magnesium. Sanger sequencing revealed a novel putative pathogenic variant in intron 5 of SFRP4 (c.855+4delAGTA) in a homozygous state. This study has reported for the first time the implication of a mutation in the SFRP4 gene in an African patient presenting with PD and highlights the need for dental practitioners to be made aware of the features and management implications of PD.