Abstract
Hereditary leukonychia (porcelain nails or white nails) is a rare nail disorder with an unknown genetic basis. To identify variants in a gene underlying this phenotype, we identified four families of Pakistani origin showing features of hereditary leukonychia. All 20 nails of each affected individual were chalky and white in appearance, consistent with total leukonychia, with no other cutaneous, appendageal, or systemic findings. By using Affymetrix 10K chip, we established linkage to chromosome 3p21.3-p22 with a LOD score (Z) of 5.1. We identified pathogenic mutations in PLCD1 in all four families, which encodes phosphoinositide-specific phospholipase C delta 1 subunit, a key enzyme in phosphoinositide metabolism. We then identified localization of PLCD1 in the nail matrix. It was recently shown that PLCD1 is a component of the human nail plate by proteomic analysis and is localized in the matrix of human nails. Furthermore, mutations detected in PLCD1 resulted in reduced enzymatic activity in vitro. Our data show that mutations in PLCD1 underlie hereditary leukonychia, revealing a gene involved in molecular control of nail growth.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 839-844 |
| Number of pages | 6 |
| Journal | American Journal of Human Genetics |
| Volume | 88 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 10 2011 |
| Externally published | Yes |
Fingerprint
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. / Kiuru, Maija Ht; Kurban, Mazen; Itoh, Munenari; Petukhova, Lynn; Shimomura, Yutaka; Wajid, Muhammad; Christiano, Angela M.
In: American Journal of Human Genetics, Vol. 88, No. 6, 10.06.2011, p. 839-844.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1
AU - Kiuru, Maija Ht
AU - Kurban, Mazen
AU - Itoh, Munenari
AU - Petukhova, Lynn
AU - Shimomura, Yutaka
AU - Wajid, Muhammad
AU - Christiano, Angela M.
PY - 2011/6/10
Y1 - 2011/6/10
N2 - Hereditary leukonychia (porcelain nails or white nails) is a rare nail disorder with an unknown genetic basis. To identify variants in a gene underlying this phenotype, we identified four families of Pakistani origin showing features of hereditary leukonychia. All 20 nails of each affected individual were chalky and white in appearance, consistent with total leukonychia, with no other cutaneous, appendageal, or systemic findings. By using Affymetrix 10K chip, we established linkage to chromosome 3p21.3-p22 with a LOD score (Z) of 5.1. We identified pathogenic mutations in PLCD1 in all four families, which encodes phosphoinositide-specific phospholipase C delta 1 subunit, a key enzyme in phosphoinositide metabolism. We then identified localization of PLCD1 in the nail matrix. It was recently shown that PLCD1 is a component of the human nail plate by proteomic analysis and is localized in the matrix of human nails. Furthermore, mutations detected in PLCD1 resulted in reduced enzymatic activity in vitro. Our data show that mutations in PLCD1 underlie hereditary leukonychia, revealing a gene involved in molecular control of nail growth.
AB - Hereditary leukonychia (porcelain nails or white nails) is a rare nail disorder with an unknown genetic basis. To identify variants in a gene underlying this phenotype, we identified four families of Pakistani origin showing features of hereditary leukonychia. All 20 nails of each affected individual were chalky and white in appearance, consistent with total leukonychia, with no other cutaneous, appendageal, or systemic findings. By using Affymetrix 10K chip, we established linkage to chromosome 3p21.3-p22 with a LOD score (Z) of 5.1. We identified pathogenic mutations in PLCD1 in all four families, which encodes phosphoinositide-specific phospholipase C delta 1 subunit, a key enzyme in phosphoinositide metabolism. We then identified localization of PLCD1 in the nail matrix. It was recently shown that PLCD1 is a component of the human nail plate by proteomic analysis and is localized in the matrix of human nails. Furthermore, mutations detected in PLCD1 resulted in reduced enzymatic activity in vitro. Our data show that mutations in PLCD1 underlie hereditary leukonychia, revealing a gene involved in molecular control of nail growth.
UR - http://www.scopus.com/inward/record.url?scp=79958791366&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79958791366&partnerID=8YFLogxK
U2 - 10.1016/j.ajhg.2011.05.014
DO - 10.1016/j.ajhg.2011.05.014
M3 - Article
C2 - 21665001
AN - SCOPUS:79958791366
VL - 88
SP - 839
EP - 844
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 6
ER -