ArticleFrontiers in genetics2020
Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologies.Frontiers in molecular neuroscience · 2026Review
- Central precocious puberty as the initial manifestation of multisystem involvement caused byFrontiers in endocrinology · 2026Article
- X-linked recessive ichthyosis with X-linked retinoschisis in two brothers: a case report.Frontiers in genetics · 2026Article
- Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia.JAMA ophthalmology · 2024Article
- Review
- Prenatally detected six duplications at Xp22.33-p11.22: a case report.BMC pregnancy and childbirth · 2023Article
- Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.BMC medical genomics · 2023Article
- Article
- Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma.Frontiers in genetics · 2023Article
- Genetics of strabismus.Frontiers in ophthalmology · 2023Article
- Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.The Journal of clinical endocrinology and metabolism · 2022Article
- [Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism].Problemy endokrinologii · 2021Article
- BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes.Molecular diagnosis & therapy · 2021Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and strabismus. XLI and KS are caused by the deletion of
methodTwo KS patients with XLI were screened to identify possible pathogenic mutations using whole exome sequencing. The clinical characteristics, molecular genetics, treatment outcomes, and genotype-phenotype association for each patient were analyzed.
resultsWe identified a novel 3,923 kb deletion within the Xp22.31 region (chrX: 5810838-9733877) containing
conclusionWe identified two novel microdeletions in the X chromosome leading to KS and XLI. These findings contribute to the understanding of the molecular mechanisms that drive contiguous gene syndromes. Our research confirmed that the Kallmann-Ichthyosis phenotype is caused by microdeletions at the chromosome level.
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