Two familial cases of Olmsted-like syndrome with a G573V mutation of the TRPV3 gene.
Olmsted syndrome (OS) is a rare disease, characterized by symmetrical, sharply defined, hyperkeratotic, mutilating plaques on the palms and soles, which are associated with periorificial keratotic plaques. Other clinical manifestations of OS include diffuse alopecia, leucokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular hyperkeratosis and constriction of the digits. A recent study identified de novo mutations in the gene for transient receptor potential vanilloid 3 (TRPV3), causing constitutive activation of the TRPV3 channel, as a cause of OS. We report familial inheritance of OS in a family from Mongolia, which was caused by a previously undescribed G573V point mutation in TRPV3. To date, mutations in the G573 residue of TRPV3 have been reported in seven cases of OS: G573S in five cases, and G573C and G573A mutations in one case each. We present a Mongolian familial case of G573V point mutation in TRPV3.
Department of Dermatology, International Mongolian Hospital of Inner Mongolia, Hohhot, Inner Mongolia Autonomous Region, PR China.
Y P
YP
Zhi
Department of Dermatology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, PR China.
J
J
Liu
Department of Dermatology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, PR China.
J W
JW
Han
Department of Dermatology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, PR China.
Y P
YP
Huang
Department of Dermatology, International Mongolian Hospital of Inner Mongolia, Hohhot, Inner Mongolia Autonomous Region, PR China.
Z Q
ZQ
Gao
Department of Dermatology, Peking University First Hospital, Beijing, PR China.
Y
Y
Yang
Department of Dermatology, International Mongolian Hospital of Inner Mongolia, Hohhot, Inner Mongolia Autonomous Region, PR China.
R N
RN
Wu
D000328:Adult; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D013577:Syndrome; D050916:TRPV Cation Channels / Q000235:genetics*
D050916:TRPV Cation Channels; C459445:TRPV3 protein, human