NDLI: Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations

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Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations

Content Provider	Springer Nature Link
Author	Forshew, Tim Johnson, Colin A. Khaliq, Shagufta Pasha, Shanaz Willis, Catherine Abbasi, Rashida Tee, Louise Smith, Ursula Trembath, Richard C. Mehdi, Syed Qasim Moore, Anthony T. Maher, Eamonn R.
Copyright Year	2005
Abstract	Isolated (non-syndromic) congenital cataract may be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive trait. Considerable progress has been made in identifying genes and loci for dominantly inherited cataract, but the molecular basis for autosomal recessive disease is less well defined. Hence we undertook genetic linkage studies in four consanguineous Pakistani families with non-syndromic autosomal recessive congenital cataracts. In two families linkage to a 38 cM region 9q13-q22 was detected. Although a locus for recessive congenital cataracts had not been mapped previously to this region, the target interval encompasses the candidate region autosomal recessive adult-onset pulverulent cataracts (CAAR). The CAAR was mapped previously to 9q13-q22, and may therefore be allelic to non-syndromic autosomal recessive congenital cataracts. The other two families did not demonstrate linkage to 9q, but both had a region of homozygosity at 16q22 containing the heat shock transcription factor 4 (HSF4) gene. The HSF4 mutations have been reported in four families with autosomal dominant cataracts and, recently, in a single kindred with autosomal recessive congenital cataract. Mutation analysis of HSF4 revealed homozygous mutations (p.Arg175Pro and c.595_599delGGGCC, respectively) in the two families. These findings confirm that mutations in HSF4 may result in both autosomal dominant and autosomal recessive congenital cataract, and highlight the locus heterogeneity in autosomal recessive congenital cataract.
Starting Page	452
Ending Page	459
Page Count	8
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	117
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-06-16
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cataract Consanguinity Mutation Pakistan Sequence analysis HSF4
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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