Mutation of a type II keratin gene (K6a) in pachyonychia congenita

Nature Genetics
P E BowdenR J Turner

Abstract

Pachyonychia congenita (PC) is a rare autosomal dominant condition characterized by multiple ectodermal abnormalities. Patients with Jadassohn-Lewandowsky Syndrome (MIM #167200; PC-1) have nail defects (onchyogryposis), palmoplantar hyperkeratosis, follicular hyperkeratosis and oral leukokeratosis. Those with the rarer Jackson-Lawler Syndrome (MIM #167210; PC-2) lack oral involvement but have natal teeth and cutaneous cysts. Ultra-structural studies have identified abnormal keratin tonofilaments and linkage to the keratin gene cluster on chromosome 17 has been found in PC families. Keratins are the major structural proteins of the epidermis and associated appendages and the nail, hair follicle, palm, sole and tongue are the main sites of constitutive K6, K16 and K17 expression. Furthermore, mutations in K16 and K17 have recently been identified in some PC patients. Although we did not detect K16 or K17 mutations in PC families from Slovenia, we have found a heterozygous deletion in a K6 isoform (K6a) in the affected members of one family. This 3 bp deletion (AAC) in exon 1 of K6a removes a highly conserved asparagine residue (delta N170) from position 8 of the 1A helical domain (delta N8). This is the first K6a mutation to be d...Continue Reading

References

Jul 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·A L TynerE Fuchs
Jan 1, 1987·Current Topics in Developmental Biology·P E BowdenN E Fusenig
Feb 1, 1988·Molecular and Cellular Biology·M RosenbergE Fuchs
Jan 1, 1988·Annual Review of Biochemistry·P M Steinert, D R Roop
Oct 1, 1988·Journal of the American Academy of Dermatology·A FeinsteinM Schewach-Millet
Aug 1, 1986·Archives of Dermatology·R M Haber, T H Rose
Mar 1, 1986·The British Journal of Dermatology·M ClementiR Tenconi
Feb 28, 1983·Biochimica Et Biophysica Acta·P E BowdenW J Cunliffe
Dec 1, 1994·Genomics·S J YoonR Kucherlapati
Mar 1, 1995·Nature Genetics·W H McLeanC Higgins
Jan 1, 1993·Archives of Dermatological Research·A KanskyA Stanimirović

❮ Previous
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Citations

Mar 19, 2008·Archives of Dermatological Research·Carol Oh AdibSancy Leachman
Feb 28, 2009·Human Genetics·Meral Julia Arin
Jul 1, 1996·Clinics in Dermatology·K M Albers
Feb 15, 2005·Clinics in Dermatology·Peter H Itin, Susanna K Fistarol
Feb 15, 2005·Clinics in Dermatology·Alan D Irvine
Apr 25, 2003·Trends in Genetics : TIG·Rebecca M Porter, E Birgitte Lane
Jul 1, 1997·Journal of the American Academy of Dermatology·C M MagroH P Baden
Jan 3, 2001·Clinics in Dermatology·T A Winning, G C Townsend
Sep 26, 1997·Journal of Dermatological Science·M ManabeH Ogawa
Oct 8, 1999·Journal of Dermatological Science·K TakahashiY Miyachi
Apr 28, 1999·Molecular Medicine Today·D P Kelsell, H P Stevens
Oct 10, 1998·The British Journal of Dermatology·S P CovelloW H McLean
Dec 22, 1999·The British Journal of Dermatology·F J SmithW H McLean
Jan 29, 2000·The British Journal of Dermatology·D De BerkerI M Leigh
May 22, 2001·The British Journal of Dermatology·J B ConnorsL M Milstone
May 22, 2001·The British Journal of Dermatology·C S Munro
Nov 7, 1999·Differentiation; Research in Biological Diversity·J A RothnagelD R Roop
Aug 10, 2001·Journal of the European Academy of Dermatology and Venereology : JEADV·Y TüzünA Kotogyan
Feb 18, 2003·Journal of Anatomy·W H Irwin McLean, UNKNOWN Epithelial Genetics Group
Nov 21, 2000·Human Gene Therapy·P A Khavari
Sep 6, 2011·Human Molecular Genetics·W H Irwin McLean, C B Tara Moore
Dec 9, 1997·The British Journal of Dermatology·R C Ratnavel, W A Griffiths
Dec 1, 1996·Experimental Dermatology·L D Corden, W H McLean
Dec 20, 2003·Journal of Medical Genetics·A Martinez-MirA M Christiano
Jan 1, 1997·The Journal of Clinical Investigation·N O KuM B Omary
Jul 10, 2009·The Journal of Clinical Investigation·M Bishr Omary

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