The chondrodysplasia with congenital joint dislocations, CHST3 type, which was distinguished by predominantly contractures, marked vertebral changes, and normal facial appearance. Although, some clinical clues can be used for differential diagnosis, it is mostly too difficult to discriminate one type from another on basis of clinical findings only. Eight patients with multiple dislocations from five unrelated families were included in this study to elucidate molecular diagnoses. Clinical exome sequencing (CES) was performed on one patient from each family. Variable degree vertebral changes, pes equinovarus, and kyphoscoliosis accompanied multiple dislocations and short stature. In CES analyses, all mutations showed in CHST3. Previously reported c.776T>C homozygous mutations were detected in two families, compound heterozygous novel c.740G>C and c.881T>C mutations were found in one family, and homozygous novel c.564C>A and c.963G>A mutations were also determined in remaining two families, separately. Biallelic CHST3 c.776T>C mutations are most frequent mutation in CHST3 and have been reported predominantly in Turkish patients which may be remarkable for genotype-ethnicity correlation in chondrodysplasia with congenital joint dislocations, CHST3 type. It is suggested that c.776T>C mutation can be accepted as a recurrent mutation in CHST3 for Turkish patients who are suspected of having chondrodysplasia with congenital joint dislocations, CHST3 type.

中文翻译：

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CHST3中c.776T> C的复发突变以及其他四个新突变和文献综述。

先天性关节脱位的软骨发育不良，CHST3型，主要表现为挛缩，明显的椎骨变化和正常的面部外观。尽管有些临床线索可用于鉴别诊断，但仅凭临床发现将一种类型与另一种类型区分开来几乎是太困难了。这项研究包括来自五个无关家庭的八位多位错患者，以阐明分子诊断。对每个家庭的一名患者进行了临床外显子组测序（CES）。椎体的不同程度变化，等腰椎和后凸畸形伴有多处脱位和身材矮小。在CES分析中，所有突变均显示在CHST3中。先前报道在两个家族中检测到c.776T> C纯合突变，复合杂合新型c.740G> 在一个家族中发现了C和c.881T> C突变，并且在剩下的两个家族中分别确定了纯合的新型c.564C> A和c.963G> A突变。双等位基因CHST3 c.776T> C突变是CHST3中最常见的突变，主要在土耳其患者中得到报道，对于先天性关节脱位，CHST3型的软骨发育不良的基因型与种族相关性可能很显着。对于怀疑患有先天性关节脱位，CHST3型的土耳其患者，建议将c.776T> C突变作为CHST3中的复发突变。C突变是CHST3中最常见的突变，主要在土耳其患者中得到报道，对于先天性关节脱位（CHST3型）的软骨发育不良的基因型与种族相关性可能很显着。对于怀疑患有先天性关节脱位，CHST3型的土耳其患者，建议将c.776T> C突变作为CHST3中的复发突变。C突变是CHST3中最常见的突变，主要在土耳其患者中得到报道，对于先天性关节脱位（CHST3型）的软骨发育不良的基因型与种族相关性可能很显着。对于怀疑患有先天性关节脱位，CHST3型的土耳其患者，建议将c.776T> C突变作为CHST3中的复发突变。