1.
J Am Acad Dermatol
; 53(5 Suppl 1): S266-72, 2005 Nov.
Article
in English
| MEDLINE
| ID: mdl-16227106
Subject(s)
Keratoderma, Palmoplantar/diagnosis , Acitretin/therapeutic use , Child, Preschool , Female , Humans , Keratoderma, Palmoplantar/drug therapy , Keratoderma, Palmoplantar/genetics , Keratoderma, Palmoplantar/pathology , Keratolytic Agents/therapeutic use , Skin/diagnostic imaging , Skin/pathology , Syndrome , Treatment Failure , Ultrasonography
2.
Nat Genet
; 36(6): 579-81, 2004 Jun.
Article
in English
| MEDLINE
| ID: mdl-15133511
ABSTRACT
Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.