病例报告：18q 缺失综合征伴髋关节发育不良患儿的遗传学分析。
Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip.
机构信息
Affiliated Hospital of Qingdao University, Qingdao, China.
Qingdao University, Qingdao, China.
出版信息
BMC Med Genomics. 2022 Sep 19;15(1):199. doi: 10.1186/s12920-022-01345-2.
OBJECTIVE
To analyze the genotypes and phenotypes of a child with developmental dysplasia of the hip (DDH), developmental delays, recurrent fever, hypothyroidism and cleft palate.
METHODS
G-banding karyotyping analysis and next-generation sequencing (NGS) were performed for the patient. The genotypes of the parents of the patient were verified by copy number variation analysis and Sanger sequencing to determine the source of variations.
RESULTS
The karyotype of the patient was 46, XX. A 10.44 Mb deletion (chr18:67562936-78005270del) at 18q22.2q23 was found by NGS. We identified 2 HSPG2 mutations (chr1: 22206699, c.2244C > A, exon 17, p.H748Q; chr1: 22157321-22157321, c.11671 + 154insA, intron). One mutation was inherited from the father, and the other was inherited from the mother.
CONCLUSION
This is the first 18q deletion syndrome case accompanied by DDH. Most phenotypes of this patient, such as developmental delays and cleft palate, may be related to the 18q22.2q23 deletion, but no variants in genes related to DDH were found in this deletion region. DDH may be related to mutations of HSPG2.
目的
分析 1 例髋关节发育不良（DDH）、发育迟缓、反复发热、甲状腺功能减退和腭裂患儿的基因型和表型。
方法
对患者进行 G 显带核型分析和下一代测序（NGS）。通过拷贝数变异分析和 Sanger 测序验证患者父母的基因型，以确定变异的来源。
结果
患者的核型为 46，XX。通过 NGS 发现 18q22.2q23 处存在 10.44 Mb 缺失（chr18:67562936-78005270del）。我们鉴定出 2 个 HSPG2 突变（chr1: 22206699，c.2244C > A，exon17，p.H748Q；chr1: 22157321-22157321，c.11671 + 154insA，intron）。1 个突变来自父亲，另 1 个突变来自母亲。
结论
这是首例伴有 DDH 的 18q 缺失综合征病例。该患者的大多数表型，如发育迟缓、腭裂，可能与 18q22.2q23 缺失有关，但在该缺失区域未发现与 DDH 相关的基因变异。DDH 可能与 HSPG2 的突变有关。
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