Sclerosing Hyaline Necrosis of the Liver in Bloom Syndrome

1999 ◽  
Vol 123 (4) ◽  
pp. 346-350 ◽  
Author(s):  
Jun Wang ◽  
Marcia E. Cornford ◽  
James German ◽  
Samuel W. French
Keyword(s):  
Liver Diseases ◽  
Autosomal Recessive ◽  
Small Body ◽  
Autosomal Recessive Disorder ◽  
Normal Liver ◽  
Bloom Syndrome ◽  
Facial Skin ◽  
Mallory Bodies ◽  
Eosinophilic Inclusions ◽  
First Time

Abstract Bloom syndrome is a rare autosomal recessive disorder characterized by normally proportioned but strikingly small body size, a characteristic facies and photosensitive facial skin lesion, immunodeficiency, and a marked predisposition to development of a variety of cancers. We describe here, we believe for the first time, pronounced sclerosing hyaline necrosis with Mallory bodies in the liver of a patient with Bloom syndrome. Mallory bodies are cytoplasmic eosinophilic inclusions, which are more common in visibly damaged, swollen hepatocytes in various liver diseases but are never found in normal liver. The possible pathogenesis of this finding in Bloom syndrome is discussed.

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

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 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.

scholarly journals Case Report: Diabetes in Chinese Bloom Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingqun Deng ◽  
Miao Yu ◽  
Ruizhi Jiajue ◽  
Kai Feng ◽  
Xinhua Xiao
Keyword(s):  
Case Report ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Clinical Spectrum ◽  
Sequence Variant ◽  
First Case ◽  
Helicase Gene

Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.

scholarly journals The DNA Helicase Activity of BLM Is Necessary for the Correction of the Genomic Instability of Bloom Syndrome Cells

1999 ◽  
Vol 10 (3) ◽  
pp. 665-676 ◽  
Author(s):  
Norma F. Neff ◽  
Nathan A. Ellis ◽  
Tian Zhang Ye ◽  
James Noonan ◽  
Kelly Huang ◽  
...  
Keyword(s):  
Genomic Instability ◽  
Nuclear Localization ◽  
Sister Chromatid ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Dna Helicase ◽  
Sister Chromatid Exchanges ◽  
Growth Deficiency ◽  
Chromatid Exchanges

Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is localized in nuclear foci and absent from BS cells. BLMencodes a DNA helicase, and proteins from three missense alleles lack displacement activity. BLM transfected into BS cells reduces the frequency of sister chromatid exchanges and restores BLM in the nucleus. Missense alleles fail to reduce the sister chromatid exchanges in transfected BS cells or restore the normal nuclear pattern. BLM complements a phenotype of aSaccharomyces cerevisiae sgs1 top3 strain, and the missense alleles do not. This work demonstrates the importance of the enzymatic activity of BLM for its function and nuclear localization pattern.

scholarly journals Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Maria Valencia ◽  
Lara Tabet ◽  
Nadine Yazbeck ◽  
Alia Araj ◽  
Victor L. Ruiz-Perez ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Medical Literature ◽  
Autosomal Recessive Disorder ◽  
Case Presentation ◽  
Homozygous Mutations ◽  
Ellis Van Creveld Syndrome ◽  
First Time

Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations inEVCandEVC2genes.Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in theEVC2gene, c.2653C>T (p.(Arg885*)) and c.2012_2015del (p.(Leu671*)) in exons 15 and 13, respectively, with the latter being reported for the first time.Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.

Genetic Analysis of Afibrinogenemia and Hypofibrinogenemia: Novel Mutations in the FGB Gene in the Turkish Population

2020 ◽  
Vol 143 (6) ◽  
pp. 529-532
Author(s):  
Didem Torun  Özkan ◽  
Nazan Sarper ◽  
Nejat Akar
Keyword(s):  
Amino Acid ◽  
Autosomal Recessive ◽  
Adenine Nucleotide ◽  
Gene Mutations ◽  
Autosomal Recessive Disorder ◽  
Turkish Population ◽  
Chain Gene ◽  
Congenital Afibrinogenemia ◽  
Low Levels ◽  
First Time

<b><i>Introduction:</i></b> Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. Hypofibrinogenemia is characterized by fibrinogen levels &#x3c;1.5 g/L. <b><i>Objective:</i></b> In this study, we analyzed fibrinogen beta chain gene mutations in Turkish afibrinogenemia and hypofibrinogenemia patients. <b><i>Methods:</i></b> We evaluated 20 afibrinogenemia and hypofibrinogenemia patients and 80 healthy controls. We have sequenced all exons of the <i>FGB</i> gene using the DNA isolated from the peripheral blood samples of patients and controls. <b><i>Results and Conclusion:</i></b> We found a nonsense mutation in exon 4 at nucleotide 630 that encoded serine amino acid, and in the same exon a missense mutation of T to C at nucleotide 647, resulting in a transition from leucine to proline (p.L198P) in a child with hypofibrinogenemia. These mutations have been shown for the first time in the same patient of Turkish descent. Furthermore, there was a novel heterozygous guanine-to-adenine nucleotide change in exon 3. This caused the change of arginine amino acid to threonine amino acid at position 136 (p.A136T) in a protein, which has not been described in the literature before.

scholarly journals A Case of Wilson’s Disease Presenting as Chronic Liver Disease

2016 ◽  
Vol 15 (3) ◽  
pp. 495-498 ◽  
Author(s):  
Mohammad Nayeem ◽  
Shahida Bulbul ◽  
Nazia Zabeen ◽  
Mohammad Nazrul Islam ◽  
Md Abdus Sobur ◽  
...  
Keyword(s):  
Liver Diseases ◽  
Autosomal Recessive ◽  
Correct Diagnosis ◽  
Medical Science ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Accurate Diagnosis ◽  
Chronic Liver ◽  
Copper Accumulation ◽  
The Brain

Wilson’s disease is one of the most common inherited liver diseases with a worldwide incidence of 10-30 million cases. The increased frequency in certain countries is due to high rates of consanguinity and the fulminant presentation of the disease is more common in females than in males. It is an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper. Subsequent copper accumulation, first in the liver but later on in the brain and other tissues, produces clinical manifestations that may include hepatic, neurological, psychiatric, ophthalmological and other derangements. Genetic testing is impractical because of the multitude of mutations that have been identified, so accurate diagnosis relies on judicious use of laboratory and other diagnostic tests. Lifelong palliative treatment with a different combination of medications, or with liver transplantation if needed, can successfully ameliorate or prevent the progressive deterioration of the disease, otherwise death would inevitably ensue. Since effective treatment is available for this disease, early and correct diagnosis is very important. Here, we report a case of Wilson’s disease in a 15-year-old girl presenting to us as chronic liver disease.Bangladesh Journal of Medical Science Vol.15(3) 2016 p.495-498

scholarly journals Pancreatic cancer in bloom syndrome

2019 ◽  
Vol 7 ◽  
pp. 2050313X1985558
Author(s):  
Itai Tzfoni ◽  
Jennifer Chayo ◽  
Meital Shaked ◽  
Ezra Bernstein ◽  
Roy Dekel ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Genomic Instability ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Gastrointestinal Cancers ◽  
Recq Helicase ◽  
First Case ◽  
Physical Features ◽  
Blm Gene

Bloom syndrome is a rare autosomal recessive disorder characterized by distinct physical features, such as short stature, genomic instability, and predisposition to numerous cancers. The BLM gene encodes for the RecQ helicase that plays an important role in genome editing, maintenance, and stability. Mutations in the BLM gene cause genomic instability that exposes the carriers to a variety of cancers, and in particular hematological and gastrointestinal cancers. Herein, we report the first case of pancreatic cancer in a 32-year-old patient with bloom syndrome.

scholarly journals Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient

2020 ◽  
Author(s):  
Musallam Al-Araimi ◽  
Nishath Hamza ◽  
Aliya Al-Hosni ◽  
Ashwaq Al Maimani
Keyword(s):  
Case Report ◽  
Middle East ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Marriage Rate ◽  
Rare Autosomal Recessive Disorder ◽  
Middle East Countries ◽  
Novel Variant ◽  
First Time

AbstractSpondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with SOS for the first time. Oman and other Middle East countries have a high consanguine marriage rate. Our case report will increase knowledge of SOS syndrome to be able to provide genetic diagnosis and counseling for other family members and families as well as prenatal diagnostics for the future pregnancies.

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