ArticleFrontiers in genetics2022
Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 4 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients.Journal of human immunity · 2026Article
- Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic DisorderJournal of clinical research in pediatric endocrinology · 2026Review
- Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.Endocrine journal · 2026Review
- Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree.Frontiers in endocrinology · 2026Article
- Implications of Genetic Factors Underlying Mouse Hydronephrosis: Cautionary Considerations on Phenotypic Interpretation in Genetically Engineered Mice.International journal of molecular sciences · 2024Article
- Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Review
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chronic granulomatous disease (CGD) and Duchenne muscular dystrophy (DMD) are X-linked recessive disorders whose genes are 4.47 Mb apart within Xp21.1. A combination of both diseases is rare with only five cases reported in the literature where it is known as Xp21.1 "contiguous gene deletion syndrome". We describe a male neonate who presented with sepsis at 19 days of age. The diagnosis of CGD with DMD was established through copy number variation sequencing (CNV-seq) with an extensive 7.5 Mb deletion of Xp21.2-Xp11.4 of the proband. One of his elder sisters and his mother are carriers. The deletion includes six known genes: glycerol kinase (
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