Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations
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DOI：
10.1111/j.1365-263x.2010.01056.x
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发表时间：
2010-07-01
影响因子：
3.8
通讯作者：
de Roux, Nicolas
中科院分区：
文献类型：
--
作者：
Bailleul-Forestier, Isabelle;Gros, Catherine;de Roux, Nicolas
背景。卡尔曼综合征 (KS) 是一种罕见的遗传性疾病，其特征是中枢性腺功能减退症，伴有嗅觉缺失，某些情况下会出现肾发育不全、耳聋、并指、唇裂/腭裂和牙齿发育不全。迄今为止，已鉴定出 5 个 KS 基因：位于 X 染色体上的 KAL1，以及 FGFR1、PROKR2、PROK2 和 FGF8，这些基因参与常染色体遗传形式的 KS.Aim。该研究描述了与 FGFR1 基因突变相关的 KS 患者的牙科疾病。其中包括六名表现出牙齿发育不全的个体。进行了临床和放射学牙科评估以及医学病历。结果。观察到小牙、螺丝刀形状的下颌切牙、薄磨牙根以及两个牙列的牙齿发育不全的模式。缺失一到九颗牙齿，最常见的缺失按降序排列为下颌外侧切牙、上颌和下颌的第二前磨牙以及上颌外侧切牙。牙齿发育不全的模式与FGFR1基因的四种新突变有关。结论：牙齿发育不全可能是由FGFR1基因突变引起的卡尔曼综合征的一个临床特征。这些发现强调了牙科医生在促性腺激素缺乏的早期诊断和治疗中可以发挥的作用。
Background. Kallmann syndrome (KS) is a rare genetic disorder characterised by central hypogonadism with a lack of sense of smell and in some cases renal aplasia, deafness, syndactyly, cleft lip/palate, and dental agenesis. To date, five genes for KS have been identified: KAL1, located on the X chromosome, and FGFR1, PROKR2, PROK2 and FGF8, which are involved in autosomally transmitted forms of KS.Aim. The study characterised the dental ageneses of individuals with KS associated with mutations in the FGFR1 gene.Design. Six individuals displaying dental agenesis were included. Clinical and radiological dental evaluations as well as medical anamneses were carried out.Results. Microdontia, screwdriver-shaped mandibular incisors, thin molar roots, and patterns of dental agenesis in both dentitions were observed. One to nine teeth were missing, most frequently, in descending order, lateral mandibular incisors, second premolars of upper and lower jaws, and lateral maxillary incisors. The pattern of dental agenesis is associated with four new mutations in the FGFR1 gene.Conclusion: Dental agenesis may be a clinical feature of Kallmann syndrome caused by a mutation in the FGFR1 gene. These findings highlight the role that odontologists can play in the early diagnosis and treatment of gonadotropic deficiency.