直到最近,下颌骨发育不良（MAD）与A型和B型脂肪营养不良是第一个想到的下颌骨发育不全的关联，脂肪营养不良,和肢端骨溶解.然而,它最近被添加到MAD的鉴别诊断中，一种新定义的综合症，叫做MDPS。MDPS是一种以出生后生长迟缓为特征的骨骼发育不良，低张力,全身性脂肪营养不良，皮肤变化,孕激素特征，和畸形的面部特征，包括突出的眼睛，长鼻子，下颌骨发育不全,和一个小嘴巴。MTX2基因的双等位基因无效变体是该综合征的原因。我们对一名6岁的骨骼发育不良患者进行了全外显子组测序（WES）。WES揭示了MTX2基因中一个新的纯合c.543+1G>T剪接位点变异。我们还从外周血中提取总RNA，并使用逆转录-聚合酶链反应生成cDNA。来自cDNA的Sanger测序显示MTX2的外显子8被跳过。这项研究增加了MDPS的遗传学和表型，并强调了全面临床和分子研究的重要性。
Until recently, mandibuloacral dysplasia (MAD) with type A and type B lipodystrophy was the first to come to mind in the association of mandibular hypoplasia, lipodystrophy, and acro-osteolysis. However, it has recently been added to the differential diagnosis of MAD, a newly defined syndrome, called MDPS. MDPS is a skeletal dysplasia characterized by postnatal growth retardation, hypotonia, generalized lipodystrophy, skin changes, progeroid traits, and dysmorphic facial features, including prominent eyes, long pinched nose, mandibular hypoplasia, and a small mouth. Biallelic null variants of the MTX2 gene are responsible for this syndrome. We performed whole-exome sequencing (WES) in a 6-year-old patient with skeletal dysplasia. WES revealed a novel homozygous c.543+1G>T splice site variant in the MTX2 gene. We also extracted total RNA from peripheral blood and used reverse transcription-polymerase chain reaction to generate cDNA. Sanger sequencing from cDNA showed that exon 8 of MTX2 was skipped. This study adds to the genetics and phenotype of MDPS and underlines the importance of comprehensive clinical and molecular research.
