Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature

2020 ◽  
Author(s):  
Ahmet Cevdet Ceylan ◽  
Elif Acar Arslan ◽  
Haktan Bağış Erdem ◽  
Haluk Kavus ◽  
Mutluay Arslan ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Recessive ◽  
Review Of The Literature

THE GENETICS OF THANATOPHORIC DWARFISM

PEDIATRICS ◽  
1973 ◽  
Vol 51 (1) ◽  
pp. 104-109
Author(s):  
Sergio Danilo Junho Pena ◽  
Harold O. Goodman
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recurrence Risk ◽  
Recessive Inheritance ◽  
Review Of The Literature ◽  
Marked Contrast ◽  
Thanatophoric Dwarfism ◽  
Genetic Mechanisms ◽  
Sporadic Cases

Two cases of thanatophoric dwarfism are presented with guidelines for diagnosis. A review of the literature is made, and from that, a discussion of possible genetic mechanisms is made. Although data favor a polygenic mechanism at the present time, it is possible that some cases are due to autosomal recessive inheritance. An empiric recurrence risk of 1:50 is suggested by cases published to date. This is in marked contrast to the small recurrence risk for sporadic cases of classical achondroplasia and the importance of differentiation between these two entities cannot be overemphasized.

scholarly journals T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Kwo Wei David Ho ◽  
Nivedita U. Jerath
Keyword(s):  
Peripheral Neuropathy ◽  
Autosomal Recessive ◽  
Clinical Effect ◽  
Case Series ◽  
Pmp22 Gene ◽  
Loss Of Function ◽  
Review Of The Literature ◽  
Partial Loss ◽  
Charcot Marie Tooth ◽  
Electrophysiological Studies

The clinical effect of T118M variant of the PMP22 gene has been controversial. Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of function variant. These three unrelated cases were heterozygotes with the T118M variant of the PMP22 gene. All three cases presented with painful peripheral neuropathy and varying degrees of Charcot-Marie-Tooth exam features. Electrophysiological studies revealed polyneuropathy with axonal and demyelinating features in one case, but there were minimal electrophysiological changes in the other two cases. We propose that the T118M variant can cause painful peripheral neuropathy, which may be an underrecognized feature of this variant.

scholarly journals Juvenile Hemochromatosis: A Case Report and Review of the Literature

2020 ◽  
Vol 13 (8) ◽  
pp. 195
Author(s):  
Akiyoshi Takami ◽  
Yasuaki Tatsumi ◽  
Katsuhisa Sakai ◽  
Yasumichi Toki ◽  
Katsuya Ikuta ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Age Of Onset ◽  
Relevant Literature ◽  
Autosomal Recessive Disorder ◽  
Age Difference ◽  
Outpatient Basis ◽  
Review Of The Literature ◽  
Hepcidin Expression ◽  
Juvenile Hemochromatosis ◽  
First Time

Juvenile hemochromatosis (JH), type 2A hemochromatosis, is a rare autosomal recessive disorder of systemic iron overload due to homozygous mutations of HJV (HFE2), which encodes hemojuvelin, an essential regulator of the hepcidin expression, causing liver fibrosis, diabetes, and heart failure before 30 years of age, often with fatal outcomes. We report two Japanese sisters of 37 and 52 years of age, with JH, who showed the same homozygous HJV I281T mutation and hepcidin deficiency and who both responded well to phlebotomy on an outpatient basis. When all reported cases of JH with homozygous HJV mutations in the relevant literature were reviewed, we found—for the first time—that JH developed in females and males at a ratio of 3:2, with no age difference in the two groups. Furthermore, we found that the age of onset of JH may depend on the types of HJV mutations. In comparison to patients with the most common G320V/G320V mutation, JH developed earlier in patients with L101P/L101P or R385X/R385X mutations and later in patients with I281T/I281T mutations.

scholarly journals Congenital Insensitivity to Pain: A Case Report and Review of the Literature

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Leema Reddy Peddareddygari ◽  
Kinsi Oberoi ◽  
Raji P. Grewal
Keyword(s):  
Genetic Disease ◽  
Autosomal Recessive ◽  
Lumbosacral Spine ◽  
Review Of The Literature ◽  
Secondary Complications ◽  
Congenital Insensitivity ◽  
Electrophysiological Studies ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain ◽  
Spine Disease

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in theSCN9Agene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot’s joints.

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