Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations

2008 ◽  
Vol 23 (9) ◽  
pp. 1286-1288 ◽  
Author(s):  
Sebastian Paus ◽  
Gabor Zsurka ◽  
Miriam Baron ◽  
Marcus Deschauer ◽  
Christian Bamberg ◽  
...  
Keyword(s):  
Compound Heterozygosity

scholarly journals Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

2000 ◽  
Vol 41 (1) ◽  
pp. 23-31
Author(s):  
Peter Lohse ◽  
Sylke Maas ◽  
Pia Lohse ◽  
Milan Elleder ◽  
Jean M. Kirk ◽  
...  
Keyword(s):  
Cholesteryl Ester ◽  
Storage Disease ◽  
Compound Heterozygosity

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.

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

2020 ◽  
Author(s):  
Matthias Eckenweiler ◽  
Johannes A. Mayr ◽  
Sarah Grünert ◽  
Angela Abicht ◽  
Rudolf Korinthenberg
Keyword(s):  
Early Childhood ◽  
Early Diagnosis ◽  
Metabolic Disorder ◽  
Autosomal Recessive ◽  
Psychomotor Development ◽  
Compound Heterozygosity ◽  
Pathogenic Variants ◽  
Clinical Stabilization ◽  
Biotin Supplementation ◽  
Thiamine Treatment

AbstractEpisodic encephalopathy due to mutations in the thiamine pyrophosphokinase 1 (TPK1) gene is a rare autosomal recessive metabolic disorder. Patients reported so far have onset in early childhood of acute encephalopathic episodes, which result in a progressive neurologic dysfunction including ataxia, dystonia, and spasticity. Here, we report the case of an infant with TPK1 deficiency (compound heterozygosity for two previously described pathogenic variants) presenting with two encephalopathic episodes and clinical stabilization under oral thiamine and biotin supplementation. In contrast to other reported cases, our patient showed an almost normal psychomotor development, which might be due to an early diagnosis and subsequent therapy.

scholarly journals Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient

2011 ◽  
Vol 152 (6) ◽  
pp. 780-783 ◽  
Author(s):  
Adrienne M. Hammill ◽  
Mary A. Risinger ◽  
Clinton H. Joiner ◽  
Mehdi Keddache ◽  
Theodosia A. Kalfa
Keyword(s):  
Compound Heterozygosity ◽  
Caucasian Patient ◽  
Novel Mutations ◽  
Protein 4.2

Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants

HORMONES ◽  
2021 ◽  
Author(s):  
I. Fylaktou ◽  
P. Smyrnaki ◽  
A. Sertedaki ◽  
M. Dracopoulou ◽  
Ch. Kanaka-Gantenbein
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Gene Variants ◽  
Compound Heterozygosity ◽  
Adrenal Hyperplasia
Sign in / Sign up

Export Citation Format

Share Document