The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21

Rahman, Nazneen, Dunstan, Melanie ORCID: https://orcid.org/0000-0003-3817-2142, Teare, M. Dawn, Hanks, Sandra, Edkins, Sarah J., Hughes, Jaime, Bignell, Graham R., Mancini, Grazia, Kleijer, Wim, Campbell, Mary, Keser, Gokhan, Black, Carol, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Arbour, Laura, Warman, Matthew, Superti-Furga, Andrea, Futreal, P. Andrew and Pope, F. Michael 2002. The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21. The American Journal of Human Genetics 71 (4) , pp. 975-980. 10.1086/342776

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0002-9297
Last Modified:	31 Oct 2022 09:55
URI:	https://orca.cardiff.ac.uk/id/eprint/82908

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