scholarly journals Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Jing Ruan ◽  
Bing Han ◽  
Junling Zhuang ◽  
Miao Chen ◽  
Fangfei Chen ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Intrinsic Factor ◽  
Chinese Patient ◽  
Cobalamin Deficiency ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Indirect Bilirubin ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

Abstract Background Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually present with cobalamin deficiency without gastroscopy abnormality and intrinsic factor antibodies. Case presentation A Chinese patient presented with recurrent severe anemia since age 2 with low cobalamin level and a mild elevation of indirect bilirubin. The hemoglobin level normalized each time after intramuscular vitamin B12 injection. Gene test verified a c.776delA frame shift mutation in exon 6 combined with c.585C > A nonsense early termination mutation in exon 5 of GIF which result in the dysfunction of gastric intrinsic factor protein. The hereditary intrinsic factor deficiency in literature was further reviewed and the ancestry of different mutation sites were discussed. Conclusions A novel compound heterozygous mutation of GIF in a Chinese patient of hereditary intrinsic factor deficiency was reported. It was the first identified mutation of GIF in East-Asia and may indicate a new ancestry.

scholarly journals A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia

Medicine ◽  
2020 ◽  
Vol 99 (32) ◽  
pp. e21634
Author(s):  
Dongqing Cui ◽  
Yanxia Liu ◽  
Liang Jin ◽  
Liping Hu ◽  
Lili Cao
Keyword(s):  
Chinese Patient ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Arginase 1

scholarly journals Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ziyu Ren ◽  
Jixiu Yi ◽  
Min Zhong ◽  
Yunting Wang ◽  
Qicong Liu ◽  
...  
Keyword(s):  
Genetic Disease ◽  
Target Genes ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Wolfram Syndrome ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations ◽  
Wfs1 Gene

Abstract Background Wolfram syndrome (WFS) is a rare autosomal recessive genetic disease whose main cause is mutations in the WFS1 and CISD2 genes. Its characteristic clinical manifestations are diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Methods In this study, two patients from this particular family underwent complete routine biochemical and ophthalmic tests. Blood, urine, routine stool test, visual acuity (VA) examination, visual field assessment, funduscope, optical coherence tomography and periorbital magnetic resonance imaging (MRI) scans were performed for each patient to evaluate whether the nerve fiber layer around the optic nerve head was atrophied and next-generation sequencing of target genes was performed in two patients. Results When the patients were diagnosed with Wolfram syndrome, their genetic analyses suggested unique three-site compound heterozygous mutations (c.2314C > T + c.2194C > T + c.2171C > T) in exon 8 of both patients’ chromosome 4. One mutation (c.2314C > T) was a novel mutation in the known reports of Wolfram syndrome. As a degenerative genetic disease, the types of gene mutations in the Chinese population are generally homozygous mutations at the unit point or compound heterozygous mutations at two nucleotide change sites. However, the two patients reported in this study are the first known cases of compound heterozygous mutations with three mutation sites coexisting on the WFS1 gene in China or even globally. Conclusions This study expands the phenotypic spectrum of Wolfram syndrome and may reveal a novel mutation pattern of pathogenesis of Wolfram syndrome. The implications of this discovery are valuable in the clinical diagnosis, prognosis, and treatment of patients with WFS1.

Immunodeficiency and severe gastrointestinal manifestations in a patient with novel DKC1 mutations causing Hoyeraal–Hreidarsson syndrome

2016 ◽  
Vol 3 (3) ◽  
pp. 119-126 ◽  
Author(s):  
Nufar Marcus
Keyword(s):  
Case Report ◽  
Cell Function ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Combined Immunodeficiency ◽  
Gastrointestinal Manifestations ◽  
Over Time

Background: Hoyeraal–Hreidarsson syndrome (HHS) is considered a clinically severe variant of dyskeratosis congenita (DKC) and represents the extreme phenotype caused by aberrant telomere biology. Unlike patients with DKC who present later in life, most cases of HHS present in the first years of life. Clinical features include intrauterine growth restriction and microcephaly, which are universal but not pathognomonic, as well as gastrointestinal, immunological and neurological manifestations. The immunological profile is varied as a result of cellular immunodeficiency, humoral defects, or both, and may be the presenting symptom of these patients. Moreover, the immunological phenotype can change over time, making HHS a diagnostic challenge. Methods: This case report highlights the clinical presentation and immune investigations of a male patient with a novel mutation in DKC1, causing HHS. Results: Here, we describe a patient with HHS who presented with Pneumocystis jiroveci pneumonia and low T cells, which is typical of severe combined immunodeficiency. Over time, he developed agammaglobulinemia whereas T-cell function improved. He also presented with extremely severe gastrointestinal manifestations, and died at 3 years of age. Conclusion: This case report highlights a novel compound heterozygous mutation in DKC1, and the need to consider HHS as the differential diagnosis of patients with combined immunodeficiency. Statement of novelty: The case reports on a novel mutation in DKC1.

scholarly journals A Novel Compound Heterozygous Mutation of FSHR Causes Primary Ovarian Insufficiency

2020 ◽  
Author(s):  
Nan Zhang ◽  
Jiawei Xu ◽  
Xiao Bao ◽  
Feifei Zhao ◽  
Dayuan Shi ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Primary Ovarian Insufficiency ◽  
Compound Heterozygous Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Primary Amenorrhea ◽  
Compound Heterozygous ◽  
Ovarian Insufficiency ◽  
Functional Analyses

Abstract Background: Primary ovarian insufficiency, one of the main causes of female infertility, is a heterogeneous disease when it comes to the phenotype and etiology. Familial cases are observed in approximately 10% of patients which indicates a strong genetic component. However, the underlying cause remains to be identified in most cases of patients.Methods: Here we studied an un-consanguineous Han Chinese family in which four siblings are primary amenorrhea and hypergonadotropic hypogonadism. Three siblings with POI and one unaffected sibling were exome sequenced. Also, other members in this family were genotyped by Sanger Sequencing. In silicon and in-vitro functional analyses were performed.Results: Whole exome sequencing identified a shared novel compound heterozygous mutation of FSHR gene in all the affected members. c.1412T>G, the first variant identified in FSHR IL2(intracellular loop2) in POI patients, and another novel mutation c.1090_1091del were the genetic etiology of this family. In-vitro functional analyses showed that cAMP (second messenger of FSHR) producing was abolished by c.1412T>G. Conclusions: Our study identified two novel FSHR mutations in a compound heterozygous state and gave the evidence that the FSHR IL2 could play a crucial role in FSHR-caused POI.

scholarly journals Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome

2018 ◽  
pp. bcr-2018-226165 ◽  
Author(s):  
Sapna Sandal ◽  
Anupriya Kaur ◽  
Inusha Panigrahi
Keyword(s):  
Connective Tissue ◽  
Novel Mutation ◽  
Connective Tissue Disorder ◽  
Rare Disorder ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Bleeding Tendency ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 (CHST14) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the CHST14 gene was discovered. Besides being the second report of this rare disorder from India, the child till 3 years has not had any bleeding tendency as described in the earlier reports of this disorder.

Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria

2012 ◽  
Vol 105 (1) ◽  
pp. 79-83 ◽  
Author(s):  
Jinjie Xue ◽  
Jing Peng ◽  
Mingxing Zhou ◽  
Le Zhong ◽  
Fei Yin ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Malonic Aciduria
Sign in / Sign up

Export Citation Format

Share Document