scholarly journals Multimodal imaging findings in a patient with type I sialidosis with a compound heterozygous mutation in the NEU1 gene

2021 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Chao Wan ◽  
Meina Lin ◽  
Miao Jiang ◽  
Rui Hua
Keyword(s):  
Multimodal Imaging ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Type I ◽  
Imaging Findings

scholarly journals Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib

2019 ◽  
Vol 47 (12) ◽  
pp. 5996-6003
Author(s):  
Yamei Zhang ◽  
Huihui Sun ◽  
Naijun Wan
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Gene Mutations ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Type I

Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I. Methods The clinical data of one patient with glycogen storage disease-type I accumulation syndrome and the results of SLC37A4 gene testing were analyzed. DNA from peripheral blood was used to analyze the SLC37A4 mutations of the patient and his parents. Results The patient carried a compound heterozygous mutation of SLC37A4, his mother was heterozygous for the c.572C > T (p.P191L) mutation, and his father was heterozygous for the c.359C > T (p.P120L) mutation. Conclusion The patient had two gene mutations: c.359C > T (p.P120L), which is closely related to glycogen storage disease-type I, and c.572C > T (p.P191L), which is a known mutation in the disease.

scholarly journals Genetic, Prenatal, and Preimplantation Genetic Diagnosis of Glutaric Aciduria Type I

2021 ◽  
Vol 3 (1) ◽  
pp. 397-404
Author(s):  
He B ◽  
Wang L ◽  
Wu Q ◽  
Song C ◽  
Li W ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Treatment Guidelines ◽  
Genetic Diagnosis ◽  
Monogenic Disease ◽  
Compound Heterozygous Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Type I ◽  
Preimplantation Genetic Testing

Purpose: Glutaric Acid Type I (GA-I) is an inherited metabolic disorder. Although the treatment guidelines for GA-I were established a decade ago, they cannot block the vertical heredity. We aim to apply genetic methods to block the inheritance of GA-I and verifies the efficiency of Next-Generation Sequencing (NGS)-based Preimplantation Genetic Testing for Monogenic disease (PGT-M) of GA-I.Materials and methods: A non-consanguineous Chinese family was diagnosed with GA-I by Sanger sequencing. PGT-M and prenatal diagnosis (PND) were performed for the carrier. 5 blastocysts were used for the trophectoderm biopsy. After Whole-Genome Amplification (WGA), the WGA products were used for Sanger sequencing, NGS-based PGT-M and PGT-A. Sanger sequencing-based PND was performed in second trimester to confirm the results of PGT-M.Results: A compound heterozygous mutation was diagnosed in the GCDH gene with co-segregation. One is [c.533G>A (p.G178E)] and another is [c.914C>T (p.S305L)]. 2 blastocysts were diagnosed as normal and one of them was transferred into the mother’s uterus. Finally, a healthy female was born 39 weeks after transplantation.Conclusion: Our study successfully applied NGS-based PGT-M to avoid GA-I and highlights the efficiency of genetic diagnoses. It has significant implications on genetic counseling and genetic diagnosis for GA-I.

Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts

2021 ◽  
pp. 1-7
Author(s):  
Barbara Oleksy ◽  
Hanna Mierzewska ◽  
Jolanta Tryfon ◽  
Maria Wypchło ◽  
Krystyna Wasilewska ◽  
...  
Keyword(s):  
Type I Interferon ◽  
Interferon Response ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Type I ◽  
Deep White Matter ◽  
Temporal Lobes ◽  
Whole Exome ◽  
Polish Patient

We report on the first Polish patient diagnosed with the Aicardi-Goutières syndrome 5 (AGS5). AGS is caused by mutations in one of 9 genes (<i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, <i>IFIH</i>, <i>LSM11</i>, <i>RNU7-1</i>) which stimulate the type I interferon response. The diagnosis was confirmed by identifying a compound heterozygous mutation p.(Phe165Ser)/p.(Gln235*) in the <i>SAMHD1</i> gene using whole-exome sequencing. The cystic lesions in the temporal lobes are an uncommon finding in the presented patient carrying a <i>SAMHD1</i> mutation. Reporting new cases expands the range of phenotypes and plays the crucial role in understanding the AGS pathogenesis and creates new therapy approaches.

scholarly journals A Novel Compound Heterozygous Mutation in ABCB4 Gene Leading to Cholelithiasis, Progressive Familial Intrahepatic Cholestasis (Type 3), and Cirrhosis in a Child

2020 ◽  
Vol 10 (01) ◽  
pp. e134-e136
Author(s):  
Nida Mirza ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Intrahepatic Cholestasis ◽  
Gall Stone ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Initial Symptom ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Presenting Symptoms ◽  
Abcb4 Gene ◽  
Type 3

AbstractProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders of childhood which presents with intermittent or progressive episodes of cholestasis, with jaundice and pruritus as most common presenting symptoms. PFIC type 3 occurs due to mutations in the ABCB4 gene, mutation in this gene has wide spectrum of features which include intrahepatic stones, cholelithiasis, PFIC type 3, and intrahepatic cholestasis of pregnancy. Here, we are reporting a peculiar case of young male adolescent with novel variant compound heterozygote missense mutation in ABCB4 gene who had gall stone as initial symptom, followed by symptoms of PFIC and eventually decompensated chronic liver disease.

scholarly journals Leptin Receptor Compound Heterozygosity in Humans and Animal Models

2021 ◽  
Vol 22 (9) ◽  
pp. 4475
Author(s):  
Claudia Berger ◽  
Nora Klöting
Keyword(s):  
Food Intake ◽  
Animal Models ◽  
Leptin Receptor ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Compound Heterozygosity ◽  
Therapy Options ◽  
Obese Phenotype ◽  
Deficient Mice

Leptin and its receptor are essential for regulating food intake, energy expenditure, glucose homeostasis and fertility. Mutations within leptin or the leptin receptor cause early-onset obesity and hyperphagia, as described in human and animal models. The effect of both heterozygous and homozygous variants is much more investigated than compound heterozygous ones. Recently, we discovered a spontaneous compound heterozygous mutation within the leptin receptor, resulting in a considerably more obese phenotype than described for the homozygous leptin receptor deficient mice. Accordingly, we focus on compound heterozygous mutations of the leptin receptor and their effects on health, as well as possible therapy options in human and animal models in this review.

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