PMID: 11920837Mar 29, 2002Paper

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion

American Journal of Medical Genetics
Stefan VermeulenAnne De Paepe

Abstract

We describe the hitherto smallest interstitial 8p11.2 deletion in a patient with congenital spherocytosis, dysmorphic features, and growth delay in association with hypogonadotropic hypogonadism and anosmia. The latter features are characteristic for Kallmann syndrome. In contrast to the previously reported patients with 8p deletions, the present patient showed normal intelligence. Congenital spherocytosis is one of the most common hereditary hemolytic anemias. One of the three loci for congenital spherocytosis was assigned to chromosome 8p (located between 8p11.1 and 8p21) and mutations in or loss of the ankyrin-1 gene (ANK1) were identified. Molecular analysis confirmed the de novo loss of ANK1 in our patient. Kallmann syndrome, which is characterized by hypogonadotropic hypogonadism and anosmia, can be X-linked, autosomal dominant, or autosomal recessive. So far only the X-linked KAL1 gene has been identified. The present finding suggests an autosomal locus for Kallmann syndrome at 8p11.2. The simultaneous occurrence of congenital spherocytosis, Kallmann syndrome phenotype, dysmorphic features, and growth delay in this patient points to a new contiguous gene syndrome.

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Citations

Sep 15, 2004·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Catherine Dodé, Jean-Pierre Hardelin
Nov 2, 2006·Pituitary·Paola Ascoli, Francesco Cavagnini
Feb 7, 2008·Neuro-Signals·Hyung-Goo KimLawrence C Layman
Mar 2, 2010·Molecular and Cellular Endocrinology·Leticia Ferreira Gontijo SilveiraAna Claudia Latronico
Oct 23, 2008·Lancet·Silverio PerrottaNarla Mohandas
Mar 17, 2007·American Journal of Medical Genetics. Part a·B M RileyJ C Murray
Jun 11, 2005·American Journal of Medical Genetics. Part a·M CauA L Nucaro
Mar 11, 2003·Nature Genetics·Catherine DodéJean-Pierre Hardelin
Mar 11, 2006·American Journal of Medical Genetics. Part a·Eva KlopockiReinhard Ullmann
Oct 20, 2019·The Journal of Clinical Endocrinology and Metabolism·Maria StamouWilliam F Crowley
Aug 28, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·İbrahim Mert ErbaşEce Böber

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