ESPE2023 Poster Category 1 Multisystem Endocrine Disorders (28 abstracts)
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
Shiyang Gao 1 , Qianwen Zhang 1 , Biyun Feng 1 , Shili Gu 1 , Zhiying Li 1 , Lianping Sun 2 , Ru-en Yao 3 , Tingting Yu 3 , Yu Ding 1 & Xiumin Wang 1
1Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. 2Department of Neurosurgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. 3Department of Genetic Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Background: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cilia, which affect the flow of cerebrospinal fluid in the central nervous system, have much in common with respiratory cilia in terms of structure and function, hydrocephalus is rarely associated with PCD. Recently, variants of Forkhead box J1 (FOXJ1) have been found to cause PCD combined with hydrocephalus in a de novo, autosomal dominant inheritance pattern.
Methods: We performed DNA extraction, whole-exome sequencing analysis, and mutation analysis of FOXJ1 to obtain genetic data on the patient. We subsequently analyzed the patient's clinical and genetic data.
Results: The proband was a four-year-old female exhibiting normal growth and development. At the age of 3 years and 2 months, the patient experienced hand shaking and weakness in the lower limbs. Cardiac ultrasonography showed a right-sided heart, and the cranial Magnetic Resonance Imaging (MRI) showed obstructive hydrocephalus. Whole-exome sequencing indicated a de novo, heterozygous variant of FOXJ1, c.734-735 ins20. This variant was identified to be novel, not included in the Human Gene Mutation Datebase (HGMD) and Genome Aggregation Database (gnomAD), and was likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG), causing earlier termination of amino acid translation.
Conclusion: This is the first report of a de novo, autosomal dominant pattern of FOXJ1 causing PCD combined with hydrocephalus in China. The patient’s clinical symptoms were similar to those previously reported. Whole-exome sequencing confirmed that a novel variant of FOXJ1 was the cause of the PCD combined with hydrocephalus, expanding the spectrum of the genotypes associated with this condition.
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