Mutations inCRB1are a Relatively Common Cause of Autosomal Recessive Early-Onset Retinal Degeneration in the Israeli and Palestinian Populations

2013 ◽  
Vol 54 (3) ◽  
pp. 2068 ◽  
Author(s):  
Avigail Beryozkin ◽  
Lina Zelinger ◽  
Dikla Bandah-Rozenfeld ◽  
Anat Harel ◽  
Tim A. Strom ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Common Cause

scholarly journals Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats

2015 ◽  
Vol 56 (9) ◽  
pp. 5299 ◽  
Author(s):  
Ron Ofri ◽  
Christopher M. Reilly ◽  
David J. Maggs ◽  
Paul G. Fitzgerald ◽  
Yael Shilo-Benjamini ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Early Onset ◽  
Autosomal Recessive

Familial thrombophilia associated with fibrinogen Paris V: Dusart syndrome

Blood ◽  
2000 ◽  
Vol 96 (3) ◽  
pp. 1191-1193 ◽  
Author(s):  
Takashi Tarumi ◽  
Danko Martincic ◽  
Anne Thomas ◽  
Robert Janco ◽  
Mary Hudson ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Venous Thromboembolism ◽  
Early Onset ◽  
Family Members ◽  
Initial Presentation ◽  
Pulmonary Emboli ◽  
Common Cause ◽  
History Of ◽  
Prophylactic Anticoagulation ◽  
Fibrin Clots

Abstract We report on a family with a history of venous thromboembolism associated with fibrinogen Paris V (fibrinogen A-Arg554→Cys). Ten members experienced thrombotic events, including 4 with fatal pulmonary emboli. Pulmonary embolism was the presenting feature in 4. Those with the mutation and a history of thrombosis had somewhat higher fibrinogen concentrations than those with the mutation and no thrombosis (294 ± 70 mg/dL vs 217 ± 37 mg/dL, respectively). The Paris V mutation consistently caused a prolongation of the reptilase time, and fibrin clots containing the abnormal fibrinogen were more translucent than normal clots. Given the early onset of symptoms and the initial presentation with pulmonary embolism in some family members, it was justifiable to offer prophylactic anticoagulation with warfarin to carriers of the mutation. Fibrinogen Paris V has now been reported in 4 apparently unrelated families, indicating that it is a relatively common cause of dysfibrinogenemia-associated thrombosis.

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1995 ◽  
Vol 10 (2) ◽  
pp. 243-245 ◽  
Author(s):  
F. Piccolo ◽  
S.L. Roberds ◽  
M. Jeanpierre ◽  
F. Leturcq ◽  
K. Azibi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Common Cause

scholarly journals A missense mutation inASRGL1is involved in causing autosomal recessive retinal degeneration

2016 ◽  
pp. ddw113 ◽  
Author(s):  
Pooja Biswas ◽  
Venkata Ramana Murthy Chavali ◽  
Giulia Agnello ◽  
Everett Stone ◽  
Christina Chakarova ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Missense Mutation ◽  
Autosomal Recessive

scholarly journals A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Shirley Pollack ◽  
Israel Eisenstein ◽  
Adi Mory ◽  
Tamar Paperna ◽  
Ayala Ofir ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Exome Sequencing ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Critical Role ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complement Factor ◽  
Complement Components ◽  
Uremic Syndrome ◽  
Close Relatives

Background and ObjectivesAtypical hemolytic uremic syndrome (aHUS) is mostly attributed to dysregulation of the alternative complement pathway (ACP) secondary to disease-causing variants in complement components or regulatory proteins. Hereditary aHUS due to C3 disruption is rare, usually caused by heterozygous activating mutations in the C3 gene, and transmitted as autosomal dominant traits. We studied the molecular basis of early-onset aHUS, associated with an unusual finding of a novel homozygous activating deletion in C3.Design, Setting, Participants, & MeasurementsA male neonate with eculizumab-responsive fulminant aHUS and C3 hypocomplementemia, and six of his healthy close relatives were investigated. Genetic analysis on genomic DNA was performed by exome sequencing of the patient, followed by targeted Sanger sequencing for variant detection in his close relatives. Complement components analysis using specific immunoassays was performed on frozen plasma samples from the patient and mother.ResultsExome sequencing revealed a novel homozygous variant in exon 26 of C3 (c.3322_3333del, p.Ile1108_Lys1111del), within the highly conserved thioester-containing domain (TED), fully segregating with the familial disease phenotype, as compatible with autosomal recessive inheritance. Complement profiling of the patient showed decreased C3 and FB levels, with elevated levels of the terminal membrane attack complex, while his healthy heterozygous mother showed intermediate levels of C3 consumption.ConclusionsOur findings represent the first description of aHUS secondary to a novel homozygous deletion in C3 with ensuing unbalanced C3 over-activation, highlighting a critical role for the disrupted C3-TED domain in the disease mechanism.

scholarly journals Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics

2020 ◽  
Vol 182 (1) ◽  
pp. 47-56 ◽  
Author(s):  
Lotte Kleinendorst ◽  
Ozair Abawi ◽  
Hetty J van der Kamp ◽  
Mariëlle Alders ◽  
Hanne E J Meijers-Heijboer ◽  
...  
Keyword(s):  
Literature Review ◽  
Systematic Literature Review ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Leptin Receptor ◽  
Pituitary Hormone ◽  
Sequencing Data ◽  
Prevalence Estimation ◽  
Calculation Results ◽  
Number Of Individuals

Objective Leptin receptor (LepR) deficiency is an autosomal-recessive endocrine disorder causing early-onset severe obesity, hyperphagia and pituitary hormone deficiencies. As effective pharmacological treatment has recently been developed, diagnosing LepR deficiency is urgent. However, recognition is challenging and prevalence is unknown. We aim to elucidate the clinical spectrum and to estimate the prevalence of LepR deficiency in Europe. Design Comprehensive epidemiologic analysis and systematic literature review. Methods We curated a list of LEPR variants described in patients and elaborately evaluated their phenotypes. Subsequently, we extracted allele frequencies from the Genome Aggregation Database (gnomAD), consisting of sequencing data of 77 165 European individuals. We then calculated the number of individuals with biallelic disease-causing LEPR variants. Results Worldwide, 86 patients with LepR deficiency are published. We add two new patients, bringing the total of published patients to 88, of which 21 are European. All patients had early-onset obesity; 96% had hyperphagia; 34% had one or more pituitary hormone deficiencies. Our calculation results in 998 predicted patients in Europe, corresponding to a prevalence of 1.34 per 1 million people (95% CI: 0.95–1.72). Conclusions This study shows that LepR deficiency is more prevalent in Europe (n = 998 predicted patients) than currently known (n = 21 patients), suggesting that LepR deficiency is underdiagnosed. An important cause for this could be lack of access to genetic testing. Another possible explanation is insufficient recognition, as only one-third of patients has pituitary hormone deficiencies. With novel highly effective treatment emerging, diagnosing LepR deficiency is more important than ever.

scholarly journals Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

2020 ◽  
Author(s):  
Riccardo Sangermano ◽  
Iris Deitch ◽  
Virginie G Peter ◽  
Rola Ba-Abbad ◽  
Emily M Place ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Early Onset ◽  
Joubert Syndrome ◽  
Phenotypic Correlation ◽  
Cone Dystrophy ◽  
Genetic Modifiers ◽  
Retinal Degenerations ◽  
Pathogenic Variants ◽  
Systemic Disorder ◽  
The Impact

Purpose: Pathogenic variants in INPP5E cause Joubert syndrome, a systemic disorder that can manifest with retinal degeneration among other clinical features. We aimed to evaluate the role of INPP5E variants in non-syndromic inherited retinal degenerations (IRDs) of varying severity. Methods: Targeted or genome sequencing were performed in 12 unrelated non-syndromic IRD families from multiple research hospitals. Detailed clinical examination was conducted in all probands. The impact of new likely pathogenic variants was modeled on a tertiary INPP5E protein structure and all the new and published variants were analyzed for their deleteriousness and phenotypic correlation. Results: Fourteen INPP5E rare alleles were detected, 12 of which were novel. Retinal degeneration in all 12 probands was clinically distinguishable on the basis of onset and severity into Leber congenital amaurosis (n=4) and a milder, later-onset rod-cone dystrophy (n=8). Two probands showed mild ciliopathy features that resolved in childhood. Analysis of the combined impact of both alleles in syndromic and non-syndromic INPP5E patients did not reveal clear genotype-phenotype correlation, suggesting involvement of genetic modifiers. Conclusions: The study expands the phenotypic spectrum of disorders due to pathogenic variants in INPP5E and describes a new disease association with previously underdiagnosed forms of early-onset non-syndromic IRD.

scholarly journals DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

2014 ◽  
Vol 04 (03) ◽  
pp. 121-123
Author(s):  
Rathika D. Shenoy ◽  
Deepthi R. V. ◽  
Nutan Kamath ◽  
Sumana J. Kamath
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Sjögren Syndrome ◽  
Sjogren Syndrome ◽  
Cerebellar Hypoplasia ◽  
Psychomotor Delay ◽  
Neuro Imaging ◽  
Childhood Cataract

AbstractWe report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

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