Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
نویسندگان
چکیده
منابع مشابه
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. Using trio whole-exome sequencing (WES) in an sbds-nega...
متن کاملDominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of β-catenin function in cognitive impairment. In humans, β-catenin mutations that cause a spectrum of neurodevelopmental disorders have been identified. We identified de novo β-catenin mutations in patients with intellectual...
متن کاملImmune-mediated Necrotizing Myopathy With Increased Creatine Phosphokinase and Positive Signal Recognition Particle: A Case Report
Background: Knowledge about Immune-Mediated Necrotizing Myopathy (IMNM) has received significantly attention in recent years. In this study, we report a rare case of IMNM with increased Creatine Phosphokinase (CPK) and positive Signal Recognition Particle (SRP). Clinical Presentation and Intervention: The case was a 67-year-old male patient referred to Firozgar hospital affiliated to the Iran ...
متن کاملPOLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for these two mutations. While the clinical features have been reviewed, detailed analysis of their epilepsy is presented for the first time...
متن کاملOR11-002 - Mutations in MVK cause non-syndromic RP
Methods After detailed clinical characterization including funduscopy and optic coherence tomography, exome sequencing analysis was performed in a proband of Dutch origin with non-syndromic autosomal recessive RP. Identified mutations were tested for segregation within the family and in a large cohort of genetically unsolved RP patients. Upon identification of mutations in MVK, encoding mevalon...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2017
ISSN: 0021-9738,1558-8238
DOI: 10.1172/jci92876