Lipoid proteinosis: A clinical and molecular study in Egyptian patients.

Autor: Afifi HH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. Electronic address: hhafifi@gmail.com., Amr KS; Medical Molecular Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Tosson AMS; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Hassan TA; Otolaryngology Head and Neck Surgery Unit, Hearing and Speech Institute, Cairo, Egypt., Mehrez MI; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., El-Kamah GY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Jazyk: angličtina
Zdroj: Gene [Gene] 2017 Sep 10; Vol. 628, pp. 308-314. Date of Electronic Publication: 2017 Jul 15.
DOI: 10.1016/j.gene.2017.07.026
Abstrakt: Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their parents from peripheral blood by standard methods was performed. Polymerase chain reaction (PCR) amplification of the ECM1 gene was conducted using eight pairs of primers spanning over the 10 exons and splice junctions. 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.
(Copyright © 2017 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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