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.

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.

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.

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 Pancytopenia with Hyperpigmentation – Fanconi Anaemia : A Case Report

2018 ◽  
Vol 25 ◽  
pp. 84-86
Author(s):  
MB Uddin ◽  
J Ferdous ◽  
KI Jahan ◽  
MH Tarafder ◽  
F Zaman ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Autosomal Recessive Disorder ◽  
Blood Film ◽  
Fanconi Anaemia ◽  
Café Au Lait Spots ◽  
Peripheral Blood Film ◽  
History Of ◽  
Bone Marrow Study

Fanconi Anemia (FA) is a rare autosomal recessive disorder associated with pancytopenia, spontaneous chromosomal instability and a variety of congenital anomalies. A variable phenotype and age of onset of anemia makes the diagnosis difficult in some cases. We report a case of Fanconi anemia who had triangular facies, hyperpigmentation, a few café-au-lait spots, microcephaly and short stature. Peripheral blood film showed pancytopenia, bone marrow study revealed aplasia and the patient had history of sibling (elder brother) death from same problem consistent with Fanconi anaemia.TAJ 2012; 25: 84-86

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.

CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE II: REPORT OF TWO CASES AND A REVIEW OF THE LITERATURE

PEDIATRICS ◽  
1972 ◽  
Vol 50 (6) ◽  
pp. 858-866
Author(s):  
Sharon Murphy ◽  
Frank Oski
Keyword(s):  
Bone Marrow ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Significant Degree ◽  
Type Ii ◽  
Review Of The Literature ◽  
Ineffective Erythropoiesis ◽  
Congenital Dyserythropoietic Anemia ◽  
Erythroid Hyperplasia ◽  
Serum Test

Two children with congenital dyserythropoietic anemia type II, are described and contrasted. This recently recognized disorder of unknown pathogenesis is characterized by variable degrees of anemia, splenomegaly, and jaundice. Diagnosis was established by the demonstration of erythroid hyperplasia and erythroblastic multinuclearity in the bone marrow, and a positive acidified serum test. Erythrokinetic studies revealed a significant degree of ineffective erythropoiesis. One of the patients demonstrated Gaucher cells in the marrow as a presumed consequence of the increased rate of red blood cell destruction. Means of distinguishing this autosomal recessive disorder from other refractory anemias is discussed.

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)

Sign in / Sign up

Export Citation Format

Share Document