Identification of a novel mutation (C321X) in HJV

Blood ◽  
2004 ◽  
Vol 104 (7) ◽  
pp. 2176-2177 ◽  
Author(s):  
Franklin W. Huang ◽  
Isabel Rubio-Aliaga ◽  
James P. Kushner ◽  
Nancy C. Andrews ◽  
Mark D. Fleming
Keyword(s):  
Family History ◽  
Iron Overload ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Autosomal Recessive Disorder ◽  
Termination Codon ◽  
Compound Heterozygous ◽  
Juvenile Hemochromatosis ◽  
History Of

Abstract Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders. (Blood. 2004;104:2176-2177)

scholarly journals Association of Androgenetic Alopecia with Benign Prostatic Hyperplasia: A Case Control Study

2018 ◽  
Vol 16 (1) ◽  
pp. 17-23
Author(s):  
Manoj Kumar Chaudhary ◽  
Sudha Agrawal ◽  
Chandra Shekhar Agrawal
Keyword(s):  
Benign Prostatic Hyperplasia ◽  
Family History ◽  
Early Onset ◽  
Positive Family History ◽  
Prostatic Hyperplasia ◽  
Androgenetic Alopecia ◽  
Pelvic Ultrasonography ◽  
Increased Risk ◽  
History Of ◽  
Common Pathogenesis

Introduction: Androgenetic alopecia (AGA) is associated with increased risk of several systemic diseases and some environmental factors, however, controversies exist. Since AGA and Benign Prostatic Hyperplasia (BPH) share common pathogenesis and AGA manifests some decades before BPH onset, it may serve as an early marker of BPH.Objective: This study was conducted to know AGA and its association with BPH in men ≥20 years of age.Materials and Methods: Clinically diagnosed cases of AGA (n=176) and 117 age matched healthy controls were enrolled. All cases and controls were subjected for abdomino-pelvic ultrasonography, urinary flowmetry, fasting lipid profiles, glycemic index and body mass index. International Prostate Symptom Score (IPSS) was also assessed.Results: Among 176 patients, 120 (68.18%) had Hamilton-Norwood grade III AGA and 56 (31.82%) had grade IV-VII AGA. In both groups, 140 (79.55%) cases and 93 (79.49%) controls were aged <35 years respectively. Family history of AGA was present in 108 (61.36%) cases and 2 (1.71%) controls. This observation was statistically significant with OR= 89.61 (95%CI 23.67-339.29). Three (1.7%) cases and none of the controls had prostate volume >30ml. Seventeen(9.66%) cases and 4 (3.42%) controls were graded as moderately/severely symptomatic IPSS. Statistically significant association was seen between family history and early onset of hair loss (<35 years) in a male sibling or parent.Conclusion: Although positive family history was associated with early onset of AGA, no association between AGA and BPH could be elicited in our study.

scholarly journals Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency

2009 ◽  
Vol 55 (1) ◽  
pp. 28-30
Author(s):  
N Yu Kalinchenko ◽  
N A Zubkova ◽  
A N Tyulpakov
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Genetic Studies ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
History Of ◽  
17 Hydroxyprogesterone ◽  
Aldosterone Synthase Deficiency

Isolated mineralocorticoid deficiency is a rare hereditary autosomal recessive disorder that is characterized by salt wasting and that has the severest manifestations in infants. This paper is the first in the Russian literature to describe cases of isolated aldosterone deficiency. In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. By using the presented cases as an example, the authors give an algorithm for the examination and differential diagnosis of this condition and other diseases that have the similar clinical picture. Aldosterone synthase deficiency in patients was verified by molecular genetic studies - there were mutations in the CYP112 gene.

scholarly journals The Characteristics of Risk Factors in Chinese Young Women with Acute Coronary Syndrome

2020 ◽  
Author(s):  
Ruifang Liu ◽  
Fangxing Xu ◽  
Yujie Zhou ◽  
Tongku Liu
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Young Women ◽  
Early Onset ◽  
Young Female ◽  
Cardiac Insufficiency ◽  
Control Group ◽  
Significant Difference ◽  
Gynecological Diseases ◽  
History Of

Abstract Background In recent years, the prevalence rate of ACS in Chinese young women has been increasing significantly, becoming the main cause of death in young female. This study aimed to investigate the characteristics and difference of risk factors in Chinese young women with ACS and to provide references for ACS prevention and treatment. Methods A 1:1 case-control study was conducted to evaluate risk factors of 415 young female patients with ACS (ACS group) who underwent PCI treatment and 415 young female cases without ACS (control group) who were hospitalized and confirmed by coronary angiography to exclude coronary heart disease from January 2010 to August 2016. The average age of the cases in the two groups was respectively (40.77±4.02) years-old and (40.57±4.01) years-old (P> 0.05). Results The risk factors in ACS group were overweight (64.10%), hypertension (49.88%), hyperlipidemia (35.66%), diabetes (23.37%), depression or anxiety disorder (16.62%), gynecological diseases (16.39%), Hyperuricemia (15.18%), family history of early onset coronary heart disease (14.94%), hyperhomocysteinemia (11.33%), hypothyroidism(14.96%), hypercholesterolemia (8.43%) and high c-reactive protein (7.47%), and were statistically significant difference (P<0.01) compared with that of control group. The average number of risk factors per case in ACS group was significantly more than that of control groups (P<0.01). There was a statistically significant difference in the number of combined risk factors of the overweight cases compared between two groups (P<0.01). Regression analysis showed that hyperlipidemia, hyperhomocysteinemia, overweight（obesity）, high CRP, hypertension, hypothyroidism, gynecological diseases, depression or anxiety, cardiac insufficiency, hypercholesterolemia, diabetes, oral contraceptives, family history of early onset CHD, and autoimmune diseases were independent risk factors (P<0.01). The bivariate correlation analysis between CRP level and age was r= -0.158 (P<0.01). This result showed the younger ACS patient is the higher serum CRP. Conclusion The independent risk factors of ACS in young women are hyperlipidemia, hyperhomocysteinemia, overweight, high CRP, hypertension, hypothyroidism, gynecological diseases, depression or anxiety, cardiac insufficiency, hypercholesterolemia, diabetes, oral contraceptives, family history of early onset CHD, and autoimmune diseases. The co-existence of multiple risk factors is the main cause suffering from ACS in young women.

HEREDITARY AND ENVIRONMENTAL FACTORS IN THE PATHOGENESIS OF RHEUMATIC FEVER

PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond
Keyword(s):  
Family History ◽  
Rheumatic Fever ◽  
Autosomal Recessive ◽  
Positive Family History ◽  
Recessive Gene ◽  
Environmental Groups ◽  
Environmental Group ◽  
The Family ◽  
History Of ◽  
Unfavorable Environmental Factor

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.

Abetalipoproteinemia Presenting as Severe Vitamin K Deficiency

PEDIATRICS ◽  
1980 ◽  
Vol 65 (1) ◽  
pp. 161-163
Author(s):  
Fernan M. Caballero ◽  
George R. Buchanan
Keyword(s):  
Vitamin K ◽  
Autosomal Recessive ◽  
Neonatal Period ◽  
Chronic Diarrhea ◽  
Autosomal Recessive Disorder ◽  
Vitamin K Deficiency ◽  
History Of ◽  
K Deficiency ◽  
First Time ◽  
To Receive

Vitamin K deficiency has occasionally been observed in infants after the immediate neonatal period when one or more of the following features is present: diet consisting entirely of breast milk, failure to receive prophylactic vitamin K shortly after birth, therapy with broad-spectrum antibiotics, or chronic diarrhea accompanying malabsorption due to cystic fibrosis or to various acquired causes.1-7 In this report we describe for the first time an infant with the uncommon autosomal recessive disorder abetalipoproteinemia whose major presenting manifestation in early infancy was hemorrhage due to vitamin K deficiency. CASE REPORT A 6-week-old baby was brought in for evaluation because of a two- to three-week history of easy bruising.

scholarly journals Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Sha Zhao ◽  
Zhenqing Luo ◽  
Zhenghui Xiao ◽  
Liping Li ◽  
Rui Zhao ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Cohen Syndrome ◽  
The Family ◽  
Sporadic Cases

Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. Conclusions This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

scholarly journals Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Joaira Bakkach ◽  
Mohamed Mansouri ◽  
Touria Derkaoui ◽  
Ali Loudiyi ◽  
ElMostafa El Fahime ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
History Of

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.

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.

scholarly journals Juvenile Hemochromatosis: A Case Report and Review of the Literature

2020 ◽  
Vol 13 (8) ◽  
pp. 195
Author(s):  
Akiyoshi Takami ◽  
Yasuaki Tatsumi ◽  
Katsuhisa Sakai ◽  
Yasumichi Toki ◽  
Katsuya Ikuta ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Age Of Onset ◽  
Relevant Literature ◽  
Autosomal Recessive Disorder ◽  
Age Difference ◽  
Outpatient Basis ◽  
Review Of The Literature ◽  
Hepcidin Expression ◽  
Juvenile Hemochromatosis ◽  
First Time

Juvenile hemochromatosis (JH), type 2A hemochromatosis, is a rare autosomal recessive disorder of systemic iron overload due to homozygous mutations of HJV (HFE2), which encodes hemojuvelin, an essential regulator of the hepcidin expression, causing liver fibrosis, diabetes, and heart failure before 30 years of age, often with fatal outcomes. We report two Japanese sisters of 37 and 52 years of age, with JH, who showed the same homozygous HJV I281T mutation and hepcidin deficiency and who both responded well to phlebotomy on an outpatient basis. When all reported cases of JH with homozygous HJV mutations in the relevant literature were reviewed, we found—for the first time—that JH developed in females and males at a ratio of 3:2, with no age difference in the two groups. Furthermore, we found that the age of onset of JH may depend on the types of HJV mutations. In comparison to patients with the most common G320V/G320V mutation, JH developed earlier in patients with L101P/L101P or R385X/R385X mutations and later in patients with I281T/I281T mutations.

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