Abstract
We describe a highly consanguineous family, originating from Pakistan, displaying histiocytosis, joint contractures, and sensorineural deafness. The form of histiocytosis exhibited by this family does not fit readily into any of the recognized classes of this disease. It appears to represent a novel form of familial histiocytosis demonstrating autosomal recessive inheritance. Using autozygosity mapping, we have identified a homozygous region of approximately 1 cM at chromosome 11q25, in affected individuals. A maximum two-point LOD score of 3.42 (recombination fraction straight theta = .00) was obtained with marker D11S968. This is the first genetic locus to be described that is involved in the molecular pathogenesis of histiocytosis.
References
Oct 1, 1978·Annals of Human Genetics·J Ott
Jul 1, 1985·Archives of Disease in Childhood·V Broadbent, J Pritchard
Jul 1, 1972·The British Journal of Ophthalmology·B W CodlingW Martin-Walker
Jan 1, 1973·Human Heredity·P JacobsenJ Philip
Oct 1, 1981·Archives of Dermatology·R K Winkelmann
Nov 1, 1995·Nature Genetics·E Lander, L Kruglyak
Jul 1, 1994·Nature Genetics·P W ReedK M Balfour
Sep 30, 1994·Science·J C MurrayG M Duyk
Mar 14, 1996·Nature·C DibJ Weissenbach
Oct 25, 1996·Science·G D SchulerT J Hudson
Sep 1, 1996·Journal of Medical Genetics·E K PivnickA T Tharapel
Citations
Aug 13, 2011·American Journal of Medical Genetics. Part a·Audrey BasinkoMarc De Braekeleer
Dec 22, 1999·British Journal of Haematology·M AricòC Danesino
Aug 6, 2000·Pediatric Research·G E GrahamR M Egeler
Feb 9, 2010·PLoS Genetics·Neil V MorganEamonn R Maher
Jan 25, 2016·American Journal of Clinical Pathology·Jose G MantillaYanhua Wang
Apr 30, 2013·Diabetes & Metabolism·J de JesusC Julier
Mar 8, 2013·Clinical Imaging·Nurith HillerVered Molho-Pessach
Sep 6, 2011·European Journal of Medical Genetics·Laurence JonardSandrine Marlin
Feb 20, 2014·Ophthalmic Genetics·Vered Molho-PessachAbraham Zlotogorski
Sep 20, 2012·Pediatric Diabetes·Nancy S ElbarbaryPål Rasmus Njølstad
Nov 1, 2013·Journal of the American Academy of Dermatology·Vered Molho-PessachAbraham Zlotogorski
Jan 23, 1999·American Journal of Human Genetics·M OhadiD M Layton
Jun 19, 2016·Current Research in Translational Medicine·A BakhchaneA Barakat
Sep 13, 2005·Pediatric Blood & Cancer·Hans-Christoph RossbachCameron Tebbi
Jul 7, 2007·Fetal and Pediatric Pathology·Hans-Christoph Rossbach
Jun 28, 2020·Journal of Clinical Pathology·Cassandra Bruce-BrandPawel Schubert
Mar 17, 2004·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Ronald Jaffe
Oct 19, 1999·Biochimica Et Biophysica Acta·E A TelfordN J Lench
Mar 27, 2013·Pediatrics·Isabelle MelkiBrigitte Bader-Meunier