scholarly journals Keratin 16–Null Mice Develop Palmoplantar Keratoderma, a Hallmark Feature of Pachyonychia Congenita and Related Disorders

2012 ◽  
Vol 132 (5) ◽  
pp. 1384-1391 ◽  
Author(s):  
Juliane C. Lessard ◽  
Pierre A. Coulombe
Keyword(s):  
Palmoplantar Keratoderma ◽  
Keratin 16 ◽  
Hallmark Feature ◽  
Pachyonychia Congenita

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

2000 ◽  
Vol 9 (3) ◽  
pp. 170-177 ◽  
Author(s):  
F. J. D. Smith ◽  
M. P. Fisher ◽  
E. Healy ◽  
J. L. Rees ◽  
J. M. Bonifas ◽  
...  
Keyword(s):  
Protein Expression ◽  
Palmoplantar Keratoderma ◽  
Keratin 16 ◽  
Expression Studies ◽  
Pachyonychia Congenita

A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma

2011 ◽  
Vol 165 (5) ◽  
pp. 1145-1147 ◽  
Author(s):  
L-H. Cao ◽  
Y. Luo ◽  
W. Wen ◽  
W-L. Liu ◽  
L. Jiang ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Palmoplantar Keratoderma ◽  
Keratin 16 ◽  
Pachyonychia Congenita

Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16

2001 ◽  
Vol 144 (5) ◽  
pp. 1058-1062 ◽  
Author(s):  
J.B. Connors ◽  
A.K. Rahil ◽  
F.J.D. Smith ◽  
W.H.I. Mclean ◽  
L.M. Milstone
Keyword(s):  
Novel Mutation ◽  
Keratin 16 ◽  
Delayed Onset ◽  
Pachyonychia Congenita

scholarly journals A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yue Li ◽  
Yumeng Wang ◽  
Yan Ming ◽  
Pan Chaolan ◽  
Zhang Jia ◽  
...  
Keyword(s):  
Low Frequency ◽  
Gene Mutations ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Low Grade ◽  
Palmoplantar Keratoderma ◽  
Autosomal Dominant Disorder ◽  
Keratin Gene ◽  
Nail Discoloration ◽  
Pachyonychia Congenita

Abstract Background Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations in KRT6A,KRT6B,KRT6C,KRT16 or KRT17. It is characterized with nail dystrophy and palmoplantar keratoderma (PPK). The most prominent manifestation is plantar pain. This is a further unusual case of parental mosaicism in PC. Although very rare, germ cell mosaicism should be considered when providing genetic counselling for unaffected parents of a child with PC. Case presentation We report the case of a 5-year-old boy with thickening nails and oral leukokeratosis at birth. He began to develop palmoplantar keratoderma at 2 years old and his sister has similar clinical manifestation characterized with nail discoloration and thickening. A previously reported heterozygous mutation, p.Ile462Asn, was identified in KRT6A in the proband and his affected sister. SNaPshot sequencing revealed mosaicism at a level of 2.5% and 4.7% in DNA from blood and hair bulbs from the unaffected mother. HiSeq deep sequencing demonstrated low-grade mosaicism in the patient’s younger sister and parents. Conclusion These findings indicate the ability of WES and SNaPshot sequencing to detect low-frequency mosaic mutations. Although very rare, germinal mosaicism should be considered when genetic counseling is given to families with presumed spontaneous cases of PC.

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

1995 ◽  
Vol 4 (10) ◽  
pp. 1875-1881 ◽  
Author(s):  
M.K. Shamsher ◽  
H.A. Navsaria ◽  
H.P. Stevens ◽  
R.C. Ratnavel ◽  
P.E. Purkis ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Novel Mutations ◽  
Keratin 16

Novel keratin 16 mutation in a Chinese family with focal palmoplantar keratoderma

2020 ◽  
Author(s):  
Yuanyuan Zhang ◽  
Yingda Wu ◽  
Weixue Jia ◽  
Wenrui Li ◽  
Ping Cheng ◽  
...  
Keyword(s):  
Chinese Family ◽  
Palmoplantar Keratoderma ◽  
Keratin 16
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