scholarly journals Mutational Analysis of Oculocutaneous Albinism: A Compact Review

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Balu Kamaraj ◽  
Rituraj Purohit
Keyword(s):  
Autosomal Recessive ◽  
Mutational Analysis ◽  
Autosomal Recessive Disorder ◽  
Oculocutaneous Albinism ◽  
Melanin Production ◽  
Melanin Biosynthesis ◽  
Molecular Features ◽  
New Genes ◽  
Pigment Accumulation ◽  
Severe Type

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism. Recently, two new genes SLC24A5 and C10orf11 are identified that are responsible to cause OCA6 and OCA7, respectively. Also a locus has been mapped to the human chromosome 4q24 region which is responsible for genetic cause of OCA5. In this paper, we summarized the clinical and molecular features of OCA genes. Further, we reviewed the screening of pathological mutations of OCA genes and its molecular mechanism of the protein upon mutation byin silicoapproach. We also reviewed TYR (T373K, N371Y, M370T, and P313R), OCA2 (R305W), TYRP1 (R326H and R356Q) mutations and their structural consequences at molecular level. It is observed that the pathological genetic mutations and their structural and functional significance of OCA genes will aid in development of personalized medicine for albinism patients.

scholarly journals Novel HeterogenousCHS1Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Fuminori Tanabe ◽  
Hirotake Kasai ◽  
Michiko Morimoto ◽  
Shigeharu Oh ◽  
Hidetoshi Takada ◽  
...  
Keyword(s):  
Bacterial Infections ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Japanese Patients ◽  
Visual Disturbance ◽  
Oculocutaneous Albinism ◽  
Neurological Dysfunction ◽  
Nonsense Mutations ◽  
Chediak Higashi Syndrome ◽  
Exon 10

Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations ofCHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. They all had a heterogenous two-base deletion (c.5541-5542 del AA, p.Q1847fsX1850) in exon 18. Patient 4 had a heterogenous single-base insertion (c.3944-3945 ins C, p.T1315fsX1331) in exon 10. The patient exhibited severe early-onset phenotype and suffered from hemophagocytic lymphohistiocytosis. Patient 5 had two heterogenous nonsense mutations; c.7982C>G, p.S2661X in exon 30 and c.8281A>T, p.R2761X in exon 31. The patient suffered from infections in childhood and had visual disturbance and albinism of the skin and hair. TheCHS1mutations described here have not been reported previously.

scholarly journals Alpha 1 antitrypsin deficiency: a rare allele in patients from south of Italy

2019 ◽  
Vol 6 (2) ◽  
pp. 32-35
Author(s):  
Maddaloni V ◽  
Pepe N ◽  
Morano F ◽  
Lanzo M ◽  
Darco D ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Autosomal Recessive ◽  
Mutational Analysis ◽  
Gene Mutations ◽  
Autosomal Recessive Disorder ◽  
Rare Allele ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Plasma Glycoprotein ◽  
Alpha 1 Antitrypsin

Congenital α1-antitrypsin deficiency (AATD) is an autosomal recessive disorder, in Italy it is estimated that 1 in 5000 individuals may suffer from severe AATD. The AATD pathogenesis is directly related to gene mutations, which are highly polymorphic: in fact, more than 120 genetic variants closely associated with specific plasma glycoprotein concentrations have been identified. All the variants have a different clinical significance as they can cause an increase of occurrence of some pathologies such as emphysema, acute or chronic liver disease, cirrhosis, or liver failure. In particular, emphysema affects 54% of patients diagnosed with this deficit. The purpose of our study was to perform a mutational analysis of the AAT gene in order to highlight a genotype-serum correlation of AAT: we found subjects heterozygous for the rare allele PiMProcida and correlated its presence with a marked lowering of serum AAT levels.

scholarly journals Congenital Amegakaryocytic Thrombocytopenia: A Brief Review of the Literature

2010 ◽  
Vol 3 ◽  
pp. CPath.S4972 ◽  
Author(s):  
Fatma S. Al-Qahtani
Keyword(s):  
Bone Marrow ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Primary Treatment ◽  
Bleeding Complications ◽  
Type I ◽  
Cell Transplant ◽  
Missense Mutations ◽  
Severe Type ◽  
Marrow Stem Cell

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited autosomal recessive disorder that presents with thrombocytopenia and absence of megakaryocytes. It presents with bleeding recognized on day 1 of life or at least within the first month. The cause for this disorder appears to be a mutation in the gene for the thrombopoeitin (TPO) receptor, c-Mpl, despite high levels of serum TPO. Patients with severe Type I-CAMT carry nonsense Mpl mutations which causes a complete loss of the TPO receptor whereas those with Type II CAMT carry missense mutations in the Mpl gene affecting the extracellular domain of the TPO receptor. Differential diagnosis for severe CAMT includes thrombocytopenia with absent radii (TAR) and Wiskott-Aldrich syndrome (WAS). The primary treatment for CAMT is bone marrow transplantation. Bone Marrow/Stem Cell Transplant (HSCT) is the only thing that ultimately cures this genetic disease. Newer modalities are on the way, such as TPO-mimetics for binding towards partially functioning c-Mpl receptors and gene therapy. Prognosis of CAMT patients is poor, because all develop in childhood a tri-linear marrow aplasia that is always fatal when untreated. Thirty percent of patients with CAMT die due to bleeding complications and 20% -due to HSCT if it has been done.

scholarly journals Clinical and Biochemical Heterogeneity in an Italian Family with CPT II Deficiency due to Ser 113 Leu Mutation

2005 ◽  
Vol 32 (3) ◽  
pp. 316-320 ◽  
Author(s):  
Mubeen F. Rafay ◽  
E. Gordon Murphy ◽  
J. Denis McGarry ◽  
Petra Kaufmann ◽  
Salvatore DiMauro ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Prolonged Exercise ◽  
Autosomal Recessive Disorder ◽  
Muscle Stiffness ◽  
Italian Family ◽  
Molecular Features ◽  
Cultured Skin ◽  
The Common ◽  
Carnitine Palmitoyltransferase Ii ◽  
Cpt Ii Deficiency

ABSTRACT:Background:Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder which presents with recurrent myoglobinuria. Heterozygotes are usually asymptomatic.Methods:We correlate the clinical, biochemical and molecular features of a family in which the proband is homozygous for CPT II deficiency, due to the common Ser 113 Leu mutation.Results:The 20-year-old female proband presented at age three years with episodic myalgia and myoglobinuria, elevated creatine kinase (CK) of 3600 IU/L and had a 33% residual CPT II activity in cultured skin fibroblasts. Her 25-year-old dizygotic twin brothers presented with muscle stiffness following prolonged exercise but no overt pigmenturia and had interictal CKs up to 662 IU/L. Her parents and a 13-year-old brother are asymptomatic. An elder sister, not investigated, had recurrent pigmenturia and died at eight years with myoglobinuria. Molecular analysis revealed that the proband is homozygous for the Ser 113 Leu mutation. Her parents are heterozygotes with CPT II activities of 55% to 70%. Her younger brother is normal with 83% activity. The symptomatic twin brothers are heterozygous but demonstrated unexpectedly low CPT II activities of 40%, which may explain their phenotype.Conclusion:We postulate that there may be genetic, environmental and sex hormonal factors accounting for this manifesting heterozygosity and biochemical heterogeneity in CPT II deficiency.

Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH)

Blood ◽  
2006 ◽  
Vol 109 (1) ◽  
pp. 362-364 ◽  
Author(s):  
Giovanna Fabio ◽  
Francesca Minonzio ◽  
Paola Delbini ◽  
Annamaria Bianchi ◽  
Maria Domenica Cappellini
Keyword(s):  
Heart Failure ◽  
Autosomal Recessive ◽  
Causes Of Death ◽  
Autosomal Recessive Disorder ◽  
Severe Congestive Heart Failure ◽  
Iron Chelators ◽  
Cardiac Complications ◽  
Simultaneous Administration ◽  
Juvenile Hemochromatosis ◽  
Severe Type

Abstract Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder of iron metabolism, genetically heterogeneous. In JH, symptomatic organ involvement occurs as early as the second decade of life. Heart failure and/or arrhythmias are the most frequent causes of death. Phlebotomy is the safest, most effective, and most economic therapeutic approach in hemochromatosis patients but is not indicated during the treatment of severe congestive heart failure with unstable hemodynamic status. The treatment of iron overload in these prohibitive clinical situations has to be carried out using iron chelators. We report a case of heart failure in the setting of unrecognized juvenile hemochromatosis successfully treated by the simultaneous administration of deferoxamine and deferiprone. To our knowledge, this is the first patient affected by JH treated with combined chelation regimen.

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Periodontal Manifestations in a Patient with Haim-Munk Syndrome

2010 ◽  
Vol 04 (03) ◽  
pp. 338-340
Author(s):  
Kamile Erciyas ◽  
Serhat Inaloz ◽  
A. Fuat Erciyas
Keyword(s):  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Bone Destruction ◽  
Autosomal Recessive Disorder ◽  
Aggressive Periodontitis ◽  
Pes Planus ◽  
Rare Autosomal Recessive Disorder ◽  
Rare Anomaly ◽  
Palmoplantar Hyperkeratosis

Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the periodontal manifestations, in order to attract the attention of dental clinicians to this rare anomaly. (Eur J Dent 2010;4:338-340)

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

Sign in / Sign up

Export Citation Format

Share Document