scholarly journals Wolfram Syndrome in a Family with Variable Expression

2001 ◽  
Vol 44 (3) ◽  
pp. 115-118 ◽  
Author(s):  
Abdurrahman Kadayifci ◽  
Yalcin Kepekci ◽  
Yavuz Coskun ◽  
Ying Huang
Keyword(s):  
Autosomal Recessive ◽  
Dna Analysis ◽  
Neurodegenerative Disorder ◽  
Sensorineural Deafness ◽  
Autosomal Recessive Inheritance ◽  
Wolfram Syndrome ◽  
Carrier State ◽  
Variable Expression ◽  
Phenotypic Variations ◽  
Characteristic Features

Wolfram syndrome is a rare neurodegenerative disorder with autosomal recessive inheritance. The main characteristic features of this disorder are diabetes mellitus and optic atrophy. However, diabetes insipidus, sensorineural deafness, renal tract and neurologic abnormalities are seen in majority of patients. In this study, we describe a family in which two members had the main features of the syndrome while a third sibling had only sensorineural deafness. DNA analysis revealed that the fully affected siblings were homozygote for a pointmutation on chromosome 4p whereas the third sibling with deafness was a heterozygote carrier for the same mutation. The characteristics of disease and phenotypic variations that possibly related to heterozygote carrier state were discussed.

scholarly journals A rare case of proximal short limb dwarfism-rhizomelic chondrodysplasia punctata type-2

2021 ◽  
Vol 8 (10) ◽  
pp. 1750
Author(s):  
Puppala Sanjana ◽  
Triveni . ◽  
Bushra . ◽  
Vijaya Prasanna Boyeni
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Homozygous Deletion ◽  
Global Developmental Delay ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Short Limb ◽  
Frequent Form ◽  
Characteristic Features

Rhizomelic chondrodysplasia punctata (RCDP) is one of the rare peroxisomal disorder (autosomal recessive inheritance) due to altered phytanic acid alpha oxidation and plasmalogen synthesis. RCDP 1 is the most frequent form of RCDP. It is a peroxisomal biosynthesis disorder. RCDP 2 and RCDP 3 are disorders of individual peroxisome enzyme. Authors described a case of RCDP type 2 in a 13 months old girl with characteristic features of typical chondrodysplastic facies, bilateral cataract, rhizomelic shortening of limbs, growth and global developmental delay; radiological features showed epiphyseal stippling. Genetic analysis showed apparent homozygous deletion of c.1848delC after full sequencing of her GNPAT genes.

scholarly journals Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report

2013 ◽  
Vol 2 (2) ◽  
pp. 76-80
Author(s):  
K Gangadhar ◽  
S Patwari ◽  
A Verma ◽  
Kaviyarasy
Keyword(s):  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Autosomal Recessive Inheritance ◽  
Early Age ◽  
Recessive Inheritance ◽  
Fourth Decade ◽  
The Mean ◽  
Almost All ◽  
Functional Deterioration ◽  
Subcortical Cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare disease first described by van der Knaap et al, in 1995. MLC is a relatively new entity of neurodegenerative disorder of autosomal recessive inheritance characterized by infantile onset macrocephaly, cerebral leucoencephalopathy, mild neurological symptoms and an extremely slow course of functional deterioration. The degree of macrocephaly is variable and can be as much as 4-6 SD above the mean. Almost all patients have seizures from an early age. Some patients have died in their 2nd and 3rd decades but few may live till fourth decade. We report a case of 5-year-old girl diagnosed to have this disease. Nepalese Journal of Radiology; Vol. 2; Issue 2; July-Dec. 2012; 76-80 DOI: http://dx.doi.org/10.3126/njr.v2i2.7691

scholarly journals Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population

2004 ◽  
Vol 89 (4) ◽  
pp. 1656-1661 ◽  
Author(s):  
R. Medlej ◽  
J. Wasson ◽  
P. Baz ◽  
S. Azar ◽  
I. Salti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Neurodegenerative Disorder ◽  
Sensorineural Deafness ◽  
Microvascular Disease ◽  
Insulin Dependent Diabetes Mellitus ◽  
Wolfram Syndrome ◽  
Dependent Diabetes Mellitus ◽  
Number Of Patients

Abstract Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). WFS seems to be a heterogeneous disease that has not yet been fully characterized in terms of clinical features and pathophysiological mechanisms because the number of patients in most series was small. In this study we describe 31 Lebanese WFS patients belonging to 17 families; this, to our knowledge, is the largest number of patients reported in one series so far. Criteria for diagnosis of WFS were the presence of insulin-dependent diabetes mellitus and optic atrophy unexplained by any other disease. Central diabetes insipidus was found in 87% of the patients, and sensorineural deafness confirmed by audiograms was present in 64.5%. Other less frequent features included neurological and psychiatric abnormalities, urodynamic abnormalities, limited joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotropic hypogonadism in males, and diabetic microvascular disease. New features, not reported in previous descriptions, such as heart malformations and anterior pituitary dysfunction, were recognized in some of the patients and participated in the morbidity and mortality of the disease. Genetic analysis revealed WFS1 gene mutations in three families (23.5%), whereas no abnormalities were detected in mitochondrial DNA. In conclusion, WFS is a devastating disease for the patients and their families. More information about WFS will lead to a better understanding of this disease and hopefully to improvement in means of its prevention and treatment.

A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome

2016 ◽  
Vol 29 (5) ◽  
Author(s):  
Shahab Noorian ◽  
Shahram Savad ◽  
Davood Shah Mohammadi
Keyword(s):  
Nonsense Mutation ◽  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Wolfram Syndrome ◽  
Wfs1 Gene

AbstractWolfram syndrome is a rare autosomal recessive neurodegenerative disorder, which is mostly caused by mutations in the

Efficacy of GLP-1 Agonist Therapy in Autosomal Dominant WFS1-Related Disorder: A Case Report

2020 ◽  
pp. 1-6
Author(s):  
Kevin J. Scully ◽  
Joseph I. Wolfsdorf
Keyword(s):  
Diabetes Mellitus ◽  
Autosomal Dominant ◽  
Neurodegenerative Disorder ◽  
Low Frequency ◽  
Sensorineural Deafness ◽  
Indirect Evidence ◽  
Wolfram Syndrome ◽  
Related Disorder ◽  
History Of ◽  
Congenital Strabismus

<b><i>Background:</i></b> Wolfram syndrome is a rare neurodegenerative disorder, characterized by the presence of diabetes insipidus, diabetes mellitus, optic atrophy, and sensorineural deafness. The majority of cases are due to autosomal recessive biallelic variants in the <i>WFS1</i> gene; however, pathogenic autosomal dominant (AD) mutations have also been described. Glucagon-like peptide (GLP-1) agonists have been studied in both animal models and humans with classic Wolfram syndrome. <b><i>Case:</i></b> We present a 15-year-old female with a personal and family history of congenital strabismus, bilateral cataracts, low-frequency sensorineural hearing loss, and diabetes mellitus. Trio whole exome sequencing revealed a previously unknown maternally inherited heterozygous variant in exon 8 of the <i>WFS1</i> gene c.2605_2616del12 <i>p</i>.Ser869_His872del, leading to the diagnosis of AD WFS1-related disorder. Treatment with a GLP-1 agonist resulted in marked improvement in glycemic control and discontinuation of insulin therapy. This patient’s response to a GLP-1 agonist provides suggestive indirect evidence for a role of WFS1 on β-cell endoplasmic reticulum stress and suggests that treatment with a GLP-1 agonist should be considered in patients with dominant forms of WS.

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

1991 ◽  
Vol 28 (4) ◽  
pp. 277-279 ◽  
Author(s):  
J C de Almeida ◽  
D F Reis ◽  
J Llerena Junior ◽  
J Barbosa Neto ◽  
R L Pontes ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Peters Anomaly
Sign in / Sign up

Export Citation Format

Share Document