ArticleEuropean journal of endocrinology2021
Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.
Article in European journal of endocrinology, 2021. 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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7 citing papers in PubMed, 12 citations in OpenAlex.
- Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature ReviewJournal of clinical research in pediatric endocrinology · 2026Review
- Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologies.Frontiers in molecular neuroscience · 2026Review
- Novel variants inTranslational pediatrics · 2025Article
- Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.Molecular genetics & genomic medicine · 2023Article
- A genome-wide cross-cancer meta-analysis highlights the shared genetic links of five solid cancers.Frontiers in microbiology · 2023Article
- FGF8-FGFR1 signaling regulates human GnRH neuron differentiation in a time- and dose-dependent manner.Disease models & mechanisms · 2022Article
- A Nonsense Variant ofFrontiers in genetics · 2022Article
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7 authors at 3 institutions in 1 country.
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Abstract
Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2.38 Mb heterozygous deletion in 9q31.2. The deletion breakpoints (determined with whole-genome linked-read sequencing) were in the FKTN gene (9:108,331,353) and in a non-coding area (9:110,707,332) (hg19). The deletion encompassed six protein-coding genes (FKTN, ZNF462, TAL2, TMEM38B, RAD23B, and KLF4). ZNF462 haploinsufficiency was consistent with the patient's Weiss-Kruszka syndrome (craniofacial phenotype, developmental delay, and sensorineural hearing loss), but did not explain his KS. In further analyses, he did not carry rare sequence variants in 32 known KS genes in whole-exome sequencing and displayed no aberrant splicing of 15 KS genes that were expressed in peripheral blood leukocyte transcriptome. The deletion was 1.8 Mb upstream of a KS candidate gene locus (PALM2AKAP2) but did not suppress its expression. In conclusion, this is the first report of a patient with Weiss-Kruszka syndrome and KS. We suggest that patients carrying a microdeletion in 9q31.2 should be evaluated for the presence of KS and KS-related features.
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