PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene
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چکیده
منابع مشابه
Exome sequencing identifies a compound heterozygote in C5orf42 gene causing Joubert syndrome in a Chinese family
Purpose: This study is to present the diagnosis of a Chinese Joubert syndrome (JS) patient caused by compound heterozygote mutations in C5orf42 gene. Methods: A 4 months old male child and was admitted to our hospital because of poor head control andcough at least for 10 days. Routine physical examination and auxiliary instrument inspection were undertaken. Whole exome sequencing was performed ...
متن کاملReply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations
Sir, The current report by Carelli and colleagues is a timely contribution the literature on autosomal dominant optic atrophy (DOA) (Carelli et al., 2014). Similar to a recently published Letter to the Editor in Brain by Bonneau et al. (2014), they describe the intriguing association of a Behr-like phenotype in an Italian family harbouring presumed compound heterozygous OPA1 mutations. The majo...
متن کاملLETTER TOTHE EDITOR ‘Behr syndrome’ with OPA1 compound heterozygote mutations
1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy 2 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy 3 Institute of Neurology, Catholic University, Rome, Italy 4 Laboratory of Molecular Medicine, Research Children’s Hospital ‘Bambino Gesù’, Rome, Italy 5 Molecular Genetics Laboratory, Institu...
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BACKGROUND Bloom syndrome is an autosomal recessive disorder characterized by extraordinary cancer incidence early in life and an average life expectancy of ~27 years. Premature stop codons in BLM, which encodes a DNA helicase that functions in DNA double-strand-break repair, make up the vast majority of Bloom syndrome mutations, with only 13 single amino acid changes identified in the syndrome...
متن کاملA patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.
In the present study, we have isolated and sequenced the complementary DNAs of two mutant alleles for lysyl hydroxylase (LH) in fibroblasts from one patient (AT750) with Ehlers-Danlos syndrome type VI (EDS VI). We have identified a putative mutation in each allele which may be responsible for the patient's decreased LH (normalized to prolyl hydroxylase) activity (24% of normal). Intermediate le...
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ژورنال
عنوان ژورنال: European Journal of Medical Genetics
سال: 2020
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2019.04.017