Abstract：
OBJECTIVE: To report on the clinical characteristics of a family of short-rib polydactyly syndrome type III and its pathogenic variants.
METHODS: Muscle samples from the the third fetus was collected after the induction of labor, and peripheral blood samples of its parents and grandparents were also collected. Whole exome sequencing (WES) was carried out for the pedigree. Candidate variants were verified by Sanger sequencing of the family.
RESULTS: The proband was found to harbor a c.9819+1G>A variant and a c.4625C>A variant of the DYNC2H1 gene, which were respectively inherited from its mother and father. Sanger sequencing verified that the family has fit the autosomal recessive inheritance.
CONCLUSIONS: The c.9819+1G>A and c.4625C>A variants of the DYNC2H1 gene probably underlay the short-rib polydactyly syndrome type 3 in the proband.
METHODS: Muscle samples from the the third fetus was collected after the induction of labor, and peripheral blood samples of its parents and grandparents were also collected. Whole exome sequencing (WES) was carried out for the pedigree. Candidate variants were verified by Sanger sequencing of the family.
RESULTS: The proband was found to harbor a c.9819+1G>A variant and a c.4625C>A variant of the DYNC2H1 gene, which were respectively inherited from its mother and father. Sanger sequencing verified that the family has fit the autosomal recessive inheritance.
CONCLUSIONS: The c.9819+1G>A and c.4625C>A variants of the DYNC2H1 gene probably underlay the short-rib polydactyly syndrome type 3 in the proband.
摘要：
目的：报道一个Ⅲ型短肋骨多指综合征家族的临床特点及其致病变种。
方法：在引产后收集第三个胎儿的肌肉样本，还收集了其父母和祖父母的外周血样本。对谱系进行全外显子组测序(WES)。通过家族的Sanger测序验证候选变体。
结果：先证者被发现含有DYNC2H1基因的c.9819+1G>A变体和c.4625C>A变体，分别从其母亲和父亲那里继承。Sanger测序证实该家族符合常染色体隐性遗传。
结论：DYNC2H1基因的c.98191G>A和c.4625C>A变体可能是先证者中短肋多指综合征3型的基础。
方法：在引产后收集第三个胎儿的肌肉样本，还收集了其父母和祖父母的外周血样本。对谱系进行全外显子组测序(WES)。通过家族的Sanger测序验证候选变体。
结果：先证者被发现含有DYNC2H1基因的c.9819+1G>A变体和c.4625C>A变体，分别从其母亲和父亲那里继承。Sanger测序证实该家族符合常染色体隐性遗传。
结论：DYNC2H1基因的c.98191G>A和c.4625C>A变体可能是先证者中短肋多指综合征3型的基础。
