LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy
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چکیده
منابع مشابه
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
Donnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, ...
متن کاملSegmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia.
Schizophrenia is a severe mental disorder affecting approximately 1% of the world's population. Although the aetiology of schizophrenia is complex and multifactorial, with estimated heritabilities as high as 80%, genetic factors are the most compelling. Childhood-onset schizophrenia (COS), defined as onset of schizophrenia before the age of 13 years, is a rare and malignant form of the illness ...
متن کاملAtypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.
To the Editor: Gigaxonin, encoded by GAN, is essential for neuronal survival and mutations in GAN cause autosomal recessive giant axonal neuropathy 1 (GAN1, MIM 256850), which affects both the central and peripheral nervous systems (1, 2). Uniparental disomy (UPD) is defined as inheritance of a pair of chromosomes or segments from only one parent, while duplication of a single parental allele i...
متن کاملIntravascular Hemolysis Due to Glucose‐6‐Phosphate Dehydrogenase Deficiency in a Patient with Aluminium Phosphide Poisoning
Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency are two commonly seen clinical presentations in Iran. However, hemolysis associated with Aluminium Phosphide poisoning is very rare. We report a case of concurrent Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency in a 24 year old man presenting with intravascular hemolysis. Key words...
متن کاملPediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2
BACKGROUND Glycogen synthase deficiency (glycogen storage disease 0 - GSD 0) caused by mutations in the GYS2 gene is characterized by a lack of glycogen synthesis in the liver. It is a rare condition of disturbed glycogen homeostasis in the liver with less than 30 cases reported in the literature so far. CASE REPORT We report a 9 year old boy diagnosed with GSD 0 due to the newly identified, ...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2018
ISSN: 1664-3224
DOI: 10.3389/fimmu.2018.02397