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.

Neuropathological Alzheimer’s Disease Lesions in Nasu-Hakola Disease with TREM2 Mutation: Atypical Distribution of Neurofibrillary Changes

2021 ◽  
Vol 79 (1) ◽  
pp. 25-30
Author(s):  
Emanuela Maderna ◽  
Silvia Visonà ◽  
Vittorio Bolcato ◽  
Veronica Redaelli ◽  
Paola Caroppo ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Autosomal Recessive ◽  
Cerebral Atrophy ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
Neurofibrillary Changes ◽  
Axonal Spheroids ◽  
Temporal Structures ◽  
Cortical Involvement

Nasu-Hakola disease is a rare autosomal recessive disorder associated to mutations in TREM2 and DAP12 genes, neuropathologically characterized by leukoencephalopathy with axonal spheroids. We report the neuropathologic findings of a 51-year-old female with a homozygous mutation (Q33X) of TREM2 gene. Beside severe cerebral atrophy and hallmarks of Nasu-Hakola disease, significant Alzheimer’s disease lesions were present. Neurofibrillary changes showed an atypical topographic distribution being severe at spots in the neocortex while sparing the mesial temporal structures. Our finding suggests that TREM2 genetic defects may favor Alzheimer’s disease pathology with neurofibrillary changes not following the hierarchical staging of cortical involvement identified by Braak.

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 Pathophysiological aspects of liver damage in children with alpha-1-antitrypsin deficiency

2020 ◽  
Vol 65 (1) ◽  
pp. 11-21
Author(s):  
G. V. Volynets ◽  
A. V. Nikitin
Keyword(s):  
Liver Disease ◽  
Liver Damage ◽  
Autosomal Recessive ◽  
Neonatal Period ◽  
Autosomal Recessive Disease ◽  
Clinical Manifestations ◽  
Homozygous Mutation ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Alpha-1-antitrypsin deficiency is an autosomal recessive disease characterized by both liver damage and lung disease in children and adults because of a decrease in the serum protein content due to the mutations in the PI (proteinase inhibitor) gene. The majority of liver diseases are associated with a homozygous mutation of the Z allele. There are many variations of clinical manifestations of the liver disease in children with the PI*ZZ genotype.  In the neonatal period, liver disease is usually cholestatic; and it is accompanied by a prolonged cholestatic jaundice, skin itching, which can be determined only later (after 6 months), decreased appetite and bad weight gain, hepato- and splenomegaly. The article describes the pathophysiology of liver damage in children with alpha-1-antitrypsin deficiency. The authors provide their recommendations for the management of children with suspected and confirmed alpha-1-antitrypsin deficiency.

scholarly journals Molecular Diagnosis of Analbuminemia: A Novel Mutation Identified in Two Amerindian and Two Turkish Families

2002 ◽  
Vol 48 (6) ◽  
pp. 844-849 ◽  
Author(s):  
Monica Galliano ◽  
Monica Campagnoli ◽  
Antonio Rossi ◽  
Carl Heinz Wirsing von König ◽  
Andrew W Lyon ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Autosomal Recessive Disorder ◽  
Heteroduplex Analysis ◽  
Translation Product ◽  
Amino Acid Residues ◽  
New Mutation ◽  
Single Strand Conformational Polymorphism ◽  
Turkish Origin ◽  
Albumin Gene

Abstract Background: Analbuminemia is a rare autosomal recessive disorder in which individuals have little or no circulating albumin, usually the most abundant plasma protein. We describe a new mutation associated with analbuminemia. Methods: We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. The 14 exons and the flanking intron sequences of the albumin gene were amplified by PCR and screened for mutations by single-strand conformational polymorphism and heteroduplex analysis. The mutated DNA fragments were sequenced directly. Results: In all four cases, analbuminemia was caused by the same mutation, an AT deletion at nucleotides 2430–2431, the 91st and 92nd bases of exon 3. This novel defect, named Kayseri, produces a frameshift leading to a premature stop two codons downstream. The predicted translation product would consist of 54 amino acid residues. Conclusions: The AT deletion at nucleotides 2430–2431 is a novel mutation associated with analbuminemia.

scholarly journals Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene

2008 ◽  
Vol 52 (8) ◽  
pp. 1277-1281 ◽  
Author(s):  
Fernanda Borchers Coeli ◽  
Lúcio Fábio Caldas Ferraz ◽  
Sofia H. V. de Lemos-Marini ◽  
Sumara Zuanazi Pinto Rigatto ◽  
Vera Maria Santoro Belangero ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
Molecular Studies ◽  
Apparent Mineralocorticoid Excess ◽  
Gene Maps ◽  
Apparent Mineralocorticoid Excess Syndrome

The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of five exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME.

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Enise Avci Durmusalioglu ◽  
Esra Isik ◽  
Durdugul Ayyildiz Emecen ◽  
Damla Goksen ◽  
Samim Ozen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Diagnostic Process ◽  
Homozygous Mutation ◽  
Lysinuric Protein Intolerance ◽  
Case Presentation ◽  
Lysinuric Protein ◽  
Next Generation Sequencing Ngs ◽  
Protein Intolerance ◽  
Generation Sequencing

Abstract Objectives Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. We report a case diagnosed to have LPI using a Next Generation Sequencing (NGS) panel and evaluate the utility of reverse phenotyping. Case presentation A fifteen-year-old-boy with an initial diagnosis of osteogenesis imperfecta, was referred due to a number of atypical findings accompanying to osteoporosis such as splenomegaly and bicytopenia. A NGS panel (TruSight One Sequencing Panel) was performed and a novel homozygous mutation of c.257G>A (p.Gly86Glu) in the SLC7A7 gene (NM_001126106.2), responsible for LPI, was detected. The diagnosis was confirmed via reverse phenotyping. Conclusions Reverse phenotyping using a multigene panel shortens the diagnostic process.

scholarly journals Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia

2021 ◽  
Vol 12 ◽  
Author(s):  
Haihua Lin ◽  
Youhong Fang ◽  
Lin Han ◽  
Jie Chen ◽  
Jingan Lou ◽  
...  
Keyword(s):  
Hepatic Steatosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Underlying Mechanism ◽  
Causative Factor ◽  
Homozygous Mutation ◽  
Clinical Presentations ◽  
Chinese Girl ◽  
Gpd1 Gene ◽  
Generation Sequencing

Transient infantile hypertriglyceridemia is a rare autosomal recessive disorder characterized by hypertriglyceridemia, hypohepatia, hepatomegaly, hepatic steatosis and fibrosis in infancy. Mutations in GPD1 gene are considered the causative factor but the underlying mechanism of this disorder is still enigmatic. To date, only 24 different GPD1 mutations have been reported in the literature worldwide with transient infantile hypertriglyceridemia or relevant conditions. Here we report a Chinese girl who developed hepatomegaly hepatic steatosis, elevated transaminase and hypertriglyceridemia from the age of 4 months. A novel homozygous variant c.454C>T (p.Q152*) was found in GPD1 gene by next-generation sequencing. This patient is the 3rd Asian reported with transient infantile hypertriglyceridemia. We summarized the clinical presentations of transient infantile hypertriglyceridemia and also expanded the spectrum of disease-causing mutations in GPD1.

scholarly journals Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Nao Takizaki ◽  
Yoshinori Tsurusaki ◽  
Kaoru Katsumata ◽  
Yumi Enomoto ◽  
Hiroaki Murakami ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Skeletal Changes ◽  
Novel Variants ◽  
Skeletal Phenotype ◽  
Vertebral Bodies ◽  
Biallelic Mutations ◽  
Severe Growth

Abstract3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708del and c.1989_1999del of CUL7. Skeletal features were consistent with 3M syndrome in the early neonatal period but became less obvious by 2 years of age.

scholarly journals Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation

2018 ◽  
Vol 08 (01) ◽  
pp. 015-019
Author(s):  
Sana Durrani ◽  
Bee Chen ◽  
Yusnita Yakob ◽  
Lua Hian ◽  
Bushra Afroze
Keyword(s):  
Thymidine Phosphorylase ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Gastrointestinal Symptoms ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
Pakistani Family ◽  
Mitochondrial Neurogastrointestinal Encephalomyopathy ◽  
Intestinal Dysmotility ◽  
Sensorineural Hearing Impairment

AbstractMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem autosomal recessive disorder. The disease is clinically heterogeneous with gastrointestinal symptoms of intestinal dysmotility and cachexia as well as neurological symptoms of ophthalmoplegia, neuropathy, sensorineural hearing impairment, and diffuse leukoencephalopathy being most prominent. MNGIE is caused by mutations in TYMP, a gene that encodes thymidine phosphorylase (TP)—a cytosolic enzyme. Mutations in TYMP lead to very low TP catalytic activity, resulting in dramatically increased thymidine and deoxyuridine in plasma. We describe the clinical, biochemical, and neuroimaging findings of three boys with MNGIE from a Pakistani family with a novel homozygous mutation, c.798_801dupCGCG p. (Ala268Argfs*?), in exon 7 of TYMP.

A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome

2016 ◽  
Vol 29 (5) ◽  
Author(s):  
Caley Laxer ◽  
Sofia A. Rahman ◽  
Maha Sherif ◽  
Sophia Tahir ◽  
Atilla Cayir ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
Consanguineous Family ◽  
Complex Phenotype ◽  
Rare Autosomal Recessive Disorder ◽  
Alström Syndrome ◽  
Alstrom Syndrome

AbstractAlström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS.Both brothers were found to be homozygous for a novel nonsense c.7310C>A (p.S2437X) mutation in exon-8 ofThis particular mutation has never been reported before and confirmed the diagnosis of AS in the patients. Our work identifies a novel mutation in

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