Lipoid proteinosis: A clinical and molecular study in Egyptian patients

Patients exhibited a variety of clinical manifestations with skin affection and hoarseness of voice being the consistent feature. We identified five novel homozygous insertion, small deletion, missense, and splice site mutations as well as two homozygous previously published splice site mutation c.70 + 1G > C in intron 1 and c.1305-2A > G in intron 8. The specific mutations were: c.10_11insC in exon 1, c.690_691delAG in exon 6, c.734G > A in exon 7, c.1286_1287delAA in exon 8 and c.1393-1G > T in intron 9. The novel mutations c.1393-1G > T and c.10_11insC occurred in three (30%) and two (20%) unrelated patients of the studied families, respectively. Further studies may designate an increased frequency of these mutations among Egyptian LP patients. Identification of pathogenic ECM1 mutations is important for accurate diagnosis and proper genetic counseling.