Suna Kılınç1, Didem Yücel-Yılmaz2, Aylin Ardagil3, Süheyla Apaydın4, Diana Valverde5, Rıza Köksal Özgül2, Ayla Güven6,7,8. 1. Department of Pediatric Endocrinology, Göztepe Education and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey. 2. Hacettepe University, Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey. 3. Department of Ophthalmology, Göztepe Education and Research Hospital, Ophthalmology Clinics, Istanbul, Turkey. 4. Department of Nephrology, Nephrologist, Bakirkoy Sadi Konuk Education and Research Hospital, Nephrology Clinics, Istanbul, Turkey. 5. Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Pontevedra, Spain. 6. Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, Dr. Burhanettin Üstünel sokak, 34668, Üsküdar, Istanbul, Turkey, Phone: +905322380300. 7. Pediatric Endocrinologist, Göztepe Education and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey. 8. Amasya University Medical Faculty, Department of Pediatrics, Amasya, Turkey.
Abstract
BACKGROUND: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. METHODS: We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition. RESULTS: Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of them was a compound heterozygous: c.2259_2260insT, p.Glu754*; c.2035C>T p.Arg679*; c.2259_2260insT, p.Glu754*; c.5969C>G, p.Ser1990*; c.6541C>T, p. Gln2181*/c.11666-2A>G, splicing. One patient had gallstones, this association, to our knowledge, has not been reported in Alström syndrome previously. CONCLUSIONS: Early diagnosis of Alström syndrome is often difficult in children and adolescents, because many of the clinical features develop over time. Early diagnosis can initiate an effective managemen of this condition, and it will help to reduce future damage.
BACKGROUND: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. METHODS: We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition. RESULTS: Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of them was a compound heterozygous: c.2259_2260insT, p.Glu754*; c.2035C>T p.Arg679*; c.2259_2260insT, p.Glu754*; c.5969C>G, p.Ser1990*; c.6541C>T, p. Gln2181*/c.11666-2A>G, splicing. One patient had gallstones, this association, to our knowledge, has not been reported in Alström syndrome previously. CONCLUSIONS: Early diagnosis of Alström syndrome is often difficult in children and adolescents, because many of the clinical features develop over time. Early diagnosis can initiate an effective managemen of this condition, and it will help to reduce future damage.
Authors: Naglaa M Kamal; Ahmed N Sahly; Babajan Banaganapalli; Omran M Rashidi; Preetha J Shetty; Jumana Y Al-Aama; Noor A Shaik; Ramu Elango; Omar I Saadah Journal: Saudi J Biol Sci Date: 2019-09-11 Impact factor: 4.219