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.

Objective To analyze genotypes and phenotypes of a child with Developmental Dysplasia of Hip (DDH), developmental delays, recurrent fever, hypothyroidism and cleft palate. Methods G-banding karyotypeing analysis and Next-generation Sequencing(NGS) were performed on the child. The parents of the child were verified by copy number variations (CNV) and Sanger sequencing to determine the source of variations. Results The karyotype of the child was 46, XX. A 10.44Mb deletion(chr18:67562936-78005270del) at 18q22.2q23 was found by NGS, as well as HSPG2 variation (chr1: 22206699, c.2244c > A, exon 17, p.h748q; chr1: 22157321–22157321, c.11671 + 154insA, Intron) originated from father and mother, respectively. Conclusion This is the first 18q deletion syndrome case which accompanied by DDH. Most phenotypes of the child ,such as developmental delays, cleft palate, may be related to 18q22 2q23 deletion, while no variant genes related to DDH were found in this deletion region. DDH may be related to mutation of HSPG2.

: A two-year-old boy went to the doctor for hypokalemia and metabolic alkalosis. Laboratory examination revealed that urinary potassium excretion and serum aldosterone level increased, at the same time with hyperthyroidism and thyroid related antibodies positive.Genetic testing showed that there was a complex heterozygous mutation in SLC12A3 gene ,c.1077C>G(p.N359K) and c.1567G>A(p.A523?)，the final diagnosis was Gitelman syndrome and autoimmune hyperthyroidism.Gitelman syndrome is an autosomal recessive genetic disease caused by the inactivation mutation of SLC12A3 gene. The onset age is more than 6 years old, mainly manifested as low blood potassium, low blood sodium, low blood chlorine, metabolic alkalosis, increased urine potassium and urine chlorine excretion and low urine calcium.Autoimmune hyperthyroidism due to the autoimmune disorders. The highest incidence rate in children is Graves' disease, followed by chronic lymphocytic thyroiditis.Several cases of Gitelman syndrome with autoimmune hyperthyroidism had been identified, most of which were Asian adults, and the case we identified is the first reported case of children under 14 years old with both Gitelman syndrome and autoimmune hyperthyroidism.At the same time, we carried out high-precision clinical exosome analysis of the gene of this case, and further explored the relationship between Gitelman syndrome and autoimmune hyperthyroidism from the perspective of gene.

Background: Congenital disorder of glycosylation caused by mutation of the DOLK(DOLK-CDG) is a group of rare autosomal recessive diseases with an early-onset age and poor prognosis. DOLK-CDG can cause the dysfunction of multiple systems and organs such as the heart, skin, nerves, and bones. Case Presentation: We report a child with DOLK-CDG diagnosed and treated in the Affiliated Hospital of Qingdao University. The child was born with neonatal asphyxia, Ichthyoid rash, and congenital heart disease. His fingers of both the hands looked like lotus roots, and the palm and foot were covered by a white membrane. He was hospitalized with a severe infection at 4 months after birth. Physical examination showed that he was complicated with development delay and hypotonia. He experienced convulsions 1 hour after admission and died of multiple organ failure 2 hours after admission. Blood samples were taken for genetic testing before the child died. The results showed that there was a novel compound heterozygous mutation in DOLK, c.1268C＞G (P.P423R）and c.1581_1583del (P.527_528del). Conclusion: This mutation is new and not included in the human gene mutation library. The discovery of the novel mutation broadened the mutation spectrum of DOLK. At the same time, we sorted out the DOLK-CDG gene mutation sites and related clinical manifestations reported by August 2021 through a literature review.