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Identification of MSX1 Mutation in Malaysian Hypodontia Family

机译：马来西亚乳房家族MSX1突变的鉴定

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Hypodontia is defined as the absence of one to six teeth. There is high prevalence of hypodontia recorded in Malaysia (2.8%). This study aimed to identify any mutation of MSX1 in Malaysian family with hypodontia and its clinical finding. We re-examined 4 individuals from a family of the previous PAX9 study. Orthophantomogram (OPG) and intraoral photos were re-assessed. Saliva was collected for genetic analysis. Direct sequencing was done on exons 1 and 2 of MSX1. 2 out of 4 members (1A and 1D) in the family have anterior hypodontia. Point mutation on exon1 of MSX1 (c.731G>A) was observed in 1A (father) with missing 13 and 23 and 1C (carrier-son). c.732G>A was found on exonl of MSX1 of his daughter (1D) with missing 32.MSX1 mutation is involved in the occurrence of hypodontia in patient.
机译：低分发被定义为不存在一到六颗牙齿。马来西亚记录的低分发患病率（2.8％）。本研究旨在识别马来西亚家族中MSX1的任何突变及其临床发现。我们重新审查了来自以前的PAX9学习的家庭的4个人。重新评估正原咽（OPG）和口内照片。唾液被收集用于遗传分析。直接测序在MSX1的外显子1和2上进行。在家庭中有4名成员（1A和1D）中有2个具有前次乳粥样硬化。在1A（父亲）中观察到MSX1（C.731g> A）的EXON1上的点突变，缺失13和23和1C（载体 - 儿子）。在他的女儿（1D）的Exonl上发现了C.732G> A，缺失32.msx1突变参与患者患者的次生次数。

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