scholarly journals A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family

2015 ◽  
Vol 135 (3) ◽  
pp. 907-909 ◽  
Author(s):  
Yuqing He ◽  
Kang Zeng ◽  
Xibao Zhang ◽  
Qiaolin Chen ◽  
Jiang Wu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Palmoplantar Keratoderma ◽  
Gain Of Function

Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma

2011 ◽  
Vol 21 (2) ◽  
pp. 268-269 ◽  
Author(s):  
Yue-Ping ZENG ◽  
Wan-Xin CHAI ◽  
Kai FANG ◽  
Bao-Xi WANG ◽  
Ya-Gang ZUO
Keyword(s):  
Chinese Family ◽  
Palmoplantar Keratoderma

scholarly journals A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma

2014 ◽  
Vol 94 (3) ◽  
pp. 339-340 ◽  
Author(s):  
M Li ◽  
X Dai ◽  
R Cheng ◽  
L Yang ◽  
Z Yao ◽  
...  
Keyword(s):  
Deletion Mutation ◽  
Chinese Family ◽  
Palmoplantar Keratoderma

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.

A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma

2004 ◽  
Vol 150 (4) ◽  
pp. 647-651 ◽  
Author(s):  
X-H. He ◽  
X-N. Zhang ◽  
W. Mao ◽  
H-P. Chen ◽  
L-R. Xu ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Palmoplantar Keratoderma

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

Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family

2013 ◽  
Vol 173 (6) ◽  
pp. 737-741 ◽  
Author(s):  
Limeng Dai ◽  
Jun Wu ◽  
Hong Guo ◽  
Yangming Huang ◽  
Kun Zhang ◽  
...  
Keyword(s):  
Chinese Family ◽  
Palmoplantar Keratoderma ◽  
Pachyonychia Congenita
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