The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
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.
Rahman
Nazneen
N
Section of Cancer Genetics, Institute of Cancer Research, Surrey, United Kingdom. nazneen@icr.ac.uk
Dunstan
Melanie
M
Teare
M Dawn
MD
Hanks
Sandra
S
Edkins
Sarah J
SJ
Hughes
Jaime
J
Bignell
Graham R
GR
Mancini
Grazia
G
Kleijer
Wim
W
Campbell
Mary
M
Keser
Gokhan
G
Black
Carol
C
Williams
Nigel
N
Arbour
Laura
L
Warman
Matthew
M
Superti-Furga
Andrea
A
Futreal
P Andrew
PA
Pope
F Michael
FM
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