1. Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome
- Author
-
Bilge Geckinli, Ayberk Turkyilmaz, Ceren Alavanda, Gunes Sager, Esra Arslan Ates, Mehmet Ali Soylemez, Ahmet Arman, and Geckinli B., TÜRKYILMAZ A., ALAVANDA C., Sager G., Arslan Ates E., SÖYLEMEZ M. A., ARMAN A.
- Subjects
ANATOMİ VE MORFOLOJİ ,GENETİK VE KALITIM ,PATOLOJİ ,Sağlık Bilimleri ,Fundamental Medical Sciences ,Biochemistry ,BIOLOGY & BIOCHEMISTRY ,Clinical Medicine (MED) ,Biyokimya ,Surgery Medicine Sciences ,Pathology ,Biyoloji ve Biyokimya ,Klinik Tıp (MED) ,Patoloji ,Pediatri, Perinatoloji ve Çocuk Sağlığı ,GENETICS & HEREDITY ,Genetics (clinical) ,Klinik Tıp ,Temel Bilimler ,Life Sciences ,General Medicine ,Anatomi ,Tıp ,MOLECULAR BIOLOGY & GENETICS ,Cerrahi Tıp Bilimleri ,Medicine ,PEDİATRİ ,Anatomy ,Natural Sciences ,Medical Genetics ,Temel Tıp Bilimleri ,Life Sciences (LIFE) ,Molecular Biology and Genetics ,Çocuk Sağlığı ve Hastalıkları ,Child Health and Diseases ,Pathology and Forensic Medicine ,Tıbbi Genetik ,PEDIATRICS ,Yaşam Bilimleri ,Health Sciences ,Moleküler Biyoloji ve Genetik ,Human Anatomy ,Internal Medicine Sciences ,Dahili Tıp Bilimleri ,CLINICAL MEDICINE ,Yaşam Bilimleri (LIFE) ,Pediatrics, Perinatology and Child Health ,Genetik (klinik) ,ANATOMY & MORPHOLOGY ,Patoloji ve Adli Tıp - Abstract
Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may affect any ocular segment including characteristic, small, atonic pupils. WARBM is known to be caused by biallelic, pathogenic variants in at least five genes although additional genetic loci may exist. The RAB3GAP1 c.748 + 1G>A, p.Asp250CysfsTer24 founder variant has been described in families of Turkish ancestry. We report the clinical and molecular findings in three, unrelated, Turkish families with WARBM. A novel c.974-2A>G variant causing WARBM in three siblings of Turkish descent was found. Functional studies of the novel, c.2606 + 1G>A variant in patients\" mRNA revealed skipping of exon 22 which results in a premature stop codon in exon 23. However, the clinical consequences of this variant are blended given that the individual also had a maternally inherited chromosome 3q29 microduplication.
- Published
- 2023