Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2

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Iivonen , A-P , Kärkinen , J , Yellapragada , V , Sidoroff , V , Almusa , H , Vaaralahti , K & Raivio , T 2021 , ' Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2 ' , European Journal of Endocrinology , vol. 185 , no. 1 , pp. 57-66 . https://doi.org/10.1530/EJE-20-1387

Title: Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2
Author: Iivonen, Anna-Pauliina; Kärkinen, Juho; Yellapragada, Venkatram; Sidoroff, Virpi; Almusa, Henrikki; Vaaralahti, Kirsi; Raivio, Taneli
Contributor organization: Raivio Group
STEMM - Stem Cells and Metabolism Research Program
Department of Physiology
Faculty of Medicine
Research Programs Unit
University of Helsinki
HUS Children and Adolescents
Children's Hospital
Institute for Molecular Medicine Finland
Date: 2021-01
Language: eng
Number of pages: 10
Belongs to series: European Journal of Endocrinology
ISSN: 0804-4643
DOI: https://doi.org/10.1530/EJE-20-1387
URI: http://hdl.handle.net/10138/332769
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 wholegenome 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.
Subject: 3121 General medicine, internal medicine and other clinical medicine
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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