Combination of two different homozygote mutations in Pompe disease

Arslan, Alev; Poyrazoʇlu, Hatice; Kiraz, Aslihan; ÖZCAN, ALPER; Işik, Halid; Ergul, Ayse; Mungan, Neslihan; Streubel, Berthold; CEYLANER, SERDAR; Altuner Torun, Yasemin

doi:10.1111/ped.12873

Combination of two different homozygote mutations in Pompe disease

Arslan A., Poyrazoʇlu H. G., Kiraz A., ÖZCAN A., Işik H., Ergul A. B., ...Daha Fazla

Pediatrics International, cilt.58, sa.3, ss.241-243, 2016 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 58 Sayı: 3
Basım Tarihi: 2016
Doi Numarası: 10.1111/ped.12873
Dergi Adı: Pediatrics International
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.241-243
Anahtar Kelimeler: hypertrophic cardiomyopathy, infantile Pompe disease, novel mutation, GENE
Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 2016 Japan Pediatric Society.Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1-glucosidase enzyme. Here we report the case of an 8-month-old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32-13 T > G homozygote and c.1856G > A homozygote) were detected. The patient had a more progressive clinical course than expected. We emphasize the rare combination of genetic mutations in this Turkish family with Pompe disease.