title: The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
abstract: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition characterized by multiple subcutaneous nodular tumors, gingival fibromatosis, flexion contractures of the joints, and an accumulation of hyaline in the dermis. We performed a genomewide linkage search in two families with JHF from the same region of the Indian state of Gujarat and identified a region of homozygosity on chromosome 4q21. Dense microsatellite analyses within this interval in five families with JHF who were from diverse origins demonstrate that all are compatible with linkage to chromosome 4q21 (multipoint LOD score 5.5). Meiotic recombinants place the gene for JHF within a 7-cM interval bounded by D4S2393 and D4S395.
authors.affiliation: Section of Cancer Genetics, Institute of Cancer Research, Surrey, United Kingdom. nazneen@icr.ac.uk
authors.forename: Nazneen
authors.initials: N
authors.lastname: Rahman
authors.forename: Melanie
authors.initials: M
authors.lastname: Dunstan
authors.forename: M Dawn
authors.initials: MD
authors.lastname: Teare
authors.forename: Sandra
authors.initials: S
authors.lastname: Hanks
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Edkins
authors.forename: Jaime
authors.initials: J
authors.lastname: Hughes
authors.forename: Graham R
authors.initials: GR
authors.lastname: Bignell
authors.forename: Grazia
authors.initials: G
authors.lastname: Mancini
authors.forename: Wim
authors.initials: W
authors.lastname: Kleijer
authors.forename: Mary
authors.initials: M
authors.lastname: Campbell
authors.forename: Gokhan
authors.initials: G
authors.lastname: Keser
authors.forename: Carol
authors.initials: C
authors.lastname: Black
authors.forename: Nigel
authors.initials: N
authors.lastname: Williams
authors.forename: Laura
authors.initials: L
authors.lastname: Arbour
authors.forename: Matthew
authors.initials: M
authors.lastname: Warman
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: P Andrew
authors.initials: PA
authors.lastname: Futreal
authors.forename: F Michael
authors.initials: FM
authors.lastname: Pope
mesh_terms: D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005350:Fibroma / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D008297:Male; D010375:Pedigree