Perlman Syndrome

2019 ◽  
pp. 143-152
Author(s):  
Giovanni Neri
Keyword(s):  
Autosomal Recessive ◽  
Wilms Tumor ◽  
Common Occurrence ◽  
Severe Phenotype ◽  
Causal Gene ◽  
Internal Organs ◽  
Overgrowth Syndrome ◽  
Causal Mutation

This chapter describes Perlman syndrome, which is an autosomal recessive overgrowth syndrome that presents with a severe phenotype, usually resulting in early postnatal death. Overgrowth is extended to the internal organs, liver, pancreas, and especially kidneys, with histologic findings of focal hamartomas and nephroblastomatosis. These dysplasias predispose to the development of Wilms tumor, a very common occurrence in Perlman syndrome. The condition seems to be very rare, even though mild cases, if any exist, may go undiagnosed. The causal mutation affecting the DIS3L2 gene was discovered only recently and it is not known if this is the only causal gene.

scholarly journals EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

2015 ◽  
Vol 10 (1) ◽  
Author(s):  
Malika Dahmani ◽  
Fatima Ammar-Khodja ◽  
Crystel Bonnet ◽  
Gaelle M. Lefèvre ◽  
Jean-Pierre Hardelin ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Causal Gene ◽  
Childhood Onset ◽  
Progressive Hearing Loss

scholarly journals Determination of the Carnitine and Acylcarnitine Profile in Patients with Lipoid Proteinosis

2019 ◽  
Author(s):  
Ataman Gönel ◽  
Ismail Koyuncu ◽  
Mustafa Aksoy ◽  
Hakim Celik
Keyword(s):  
Autosomal Recessive ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Serum Samples ◽  
Internal Organs ◽  
Lipoid Proteinosis ◽  
Acylcarnitine Profile ◽  
Mucous Membranes ◽  
Healthy Control

Background and objectives: Lipoid proteinosis (LP) is an autosomal recessive transfer lysosomal storage disease, characterised by the accumulation of hyalin substance in the mucous membranes, skin, internal organs and brain, for which there is no biochemical diagnostic method. The aim of this study was to determine the carnitine and acylcarnitine metabolic profile with LC-MS/MS in LP patients and thereby examine the potential of this as a new biochemical method in the determination of biochemical markers in LP patients. Materials and Methods: In this study, 27 carnitine and acylcarnitine esters were measured with LC-MS/MS in serum samples taken from 14 healthy control subjects and 14 patients who presented at the Skin and Venereal Diseases Polyclinic and were diagnosed with LP as a result of clinical, radiological and histopathological examinations. Results: The results of the study showed that C0 (free carnitine) C3, C4, C4:DC, C5DC, C6, C8, C14:1, C14:2, C16 and C18 acylcarnitines were statistically significantly reduced in the LP patients (p<0.05, p<0.01). Conclusions: It was concluded that the application of carnitine profile screening, which is an inexpensive, rapid and reliable method, could make a contribution to the differential diagnosis as aa supporting laboratory test in individuals with suspected LP.

Newly recognized autosomal recessive MCA/MR/ overgrowth syndrome

1993 ◽  
Vol 47 (2) ◽  
pp. 278-280 ◽  
Author(s):  
A. Richieri-Costa ◽  
M. L. Guion-Almeida ◽  
M. M. Cohen
Keyword(s):  
Autosomal Recessive ◽  
Overgrowth Syndrome

scholarly journals Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

2020 ◽  
Vol 51 (04) ◽  
pp. 245-250
Author(s):  
Chloé Angelini ◽  
Marie Thibaud ◽  
Nathalie Aladjidi ◽  
Pierre Bessou ◽  
Sébastien Cabasson ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
De Novo ◽  
Cutis Laxa ◽  
Variable Degree ◽  
Severe Phenotype ◽  
Pathogenic Variants ◽  
Type Iiia ◽  
Recessive Type ◽  
Neurological Phenotype

AbstractCutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this syndrome.

scholarly journals MNS1 variant associated with situs inversus and male infertility

2019 ◽  
Vol 28 (1) ◽  
pp. 50-55 ◽  
Author(s):  
Joseph S. Leslie ◽  
Lettie E. Rawlins ◽  
Barry A. Chioza ◽  
Oluwaseun R. Olubodun ◽  
Claire G. Salter ◽  
...  
Keyword(s):  
Male Infertility ◽  
Situs Inversus ◽  
Autosomal Recessive ◽  
Internal Organs ◽  
Genome Wide ◽  
Whole Exome ◽  
Snp Mapping ◽  
Left Right Asymmetry ◽  
And Function ◽  
Laterality Defects

Abstract Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and hydrocephalus. Using a combination of genome-wide SNP mapping and whole exome sequencing (WES), we investigated the genetic cause of a form of situs inversus (SI) and male infertility present in multiple individuals in an extended Amish family, assuming that an autosomal recessive founder variant was responsible. This identified a single shared (2.34 Mb) region of autozygosity on chromosome 15q21.3 as the likely disease locus, in which we identified a single candidate biallelic frameshift variant in MNS1 [NM_018365.2: c.407_410del; p.(Glu136Glyfs*16)]. Genotyping of multiple family members identified randomisation of the laterality defects in other homozygous individuals, with all wild type or MNS1 c.407_410del heterozygous carriers being unaffected, consistent with an autosomal recessive mode of inheritance. This study identifies an MNS1 variant as a cause of laterality defects and male infertility in humans, mirroring findings in Mns1-deficient mice which also display male infertility and randomisation of left–right asymmetry of internal organs, confirming a crucial role for MNS1 in nodal cilia and sperm flagella formation and function.

scholarly journals Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

2013 ◽  
Vol 3 (2) ◽  
pp. 61-64
Author(s):  
Deepthi Koganti
Keyword(s):  
Oral Cavity ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Periodic Acid ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Internal Organs ◽  
Periodic Acid Schiff ◽  
Laryngeal Involvement ◽  
Hyaline Material

ABSTRACT Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the otolaryngologist as it is a rare cause of hoarseness of voice. How to cite this article Koganti D. Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice. Int J Phonosurg Laryngol 2013;3(2):61-64.

scholarly journals Gastrointestinal Involvement in Lipoid Proteinosis: A Ten-Year Follow-Up of a Brazilian Female Patient

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Juliana Custódio Lima ◽  
Cristiane Kibune Nagasako ◽  
Ciro Garcia Montes ◽  
Irene Harumi Kamata Barcelos ◽  
Rita Barbosa de Carvalho ◽  
...  
Keyword(s):  
Female Patient ◽  
Autosomal Recessive ◽  
Skin Lesions ◽  
Gastrointestinal Involvement ◽  
Internal Organs ◽  
Radiologic Findings ◽  
Lipoid Proteinosis ◽  
Rare Autosomal Recessive Disease ◽  
Typical Skin

Lipoid proteinosis is a rare autosomal recessive disease characterized by the deposition of hyaline material in the skin and internal organs. The main clinical features are hoarseness and typical skin lesions. In this report we describe the endoscopic and radiologic findings in a Brazilian female patient presenting extensive gastrointestinal involvement and the evolution of the detected lesions in ten years of follow-up. Initial upper endoscopy and colonoscopy showed a similar pattern of multiple yellowish nodules throughout the esophagus, stomach, duodenum, and colons. Histological analysis confirmed the diagnosis of lipoid proteinosis. In addition, small bowel follow through demonstrated numerous well defined, round, small filling defects throughout the jejunum. Ten years later, the esophageal lesions remained the same, but none of the previous alterations were detected in the stomach, duodenum, and colons. In conclusion, lipoid proteinosis may affect all gastrointestinal organs with the same pattern of macroscopic and microscopic lesions. Some lesions may regress with increasing age.

scholarly journals The Future of CRISPR: Looking at Gene Editing as a Treatment For Cystic Fibrosis

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Harisha Kosanam ◽  
Ananya Udyaver ◽  
Waliya Muhammad
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Gene Editing ◽  
Autosomal Recessive Disease ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Internal Organs ◽  
Cftr Protein ◽  
Cystic Fibrosis Transmembrane ◽  
Cftr Modulators

Cystic Fibrosis (CF) is a genetically inherited chronic disease that causes the production of a thick and sticky mucus primarily in the lungs. The condition tends to become worse over time. Clogged lungs and other internal organs result in breathing issues, susceptibility to infections, digestive problems, and lack of nutrition. CF is an autosomal recessive disease, indicating that an individual must inherit two copies of the defective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which then encodes for a malfunctioning CFTR protein. Because of the large number of CF patients that cannot be treated with these CFTR modulators, using gene editing to directly target the mutation can be more effective and efficient in treating cystic fibrosis. In this paper, we will discuss the promises and limitations for using gene editing as a treatment for CF.

Metabolomics in Lipoid Proteinosis

2020 ◽  
Vol 7 (1) ◽  
pp. 32-41
Author(s):  
Ataman Gonel ◽  
Ismail Koyuncu ◽  
Mustafa Aksoy ◽  
Hakim Celik
Keyword(s):  
Biochemical Markers ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Biochemical Method ◽  
Serum Samples ◽  
Internal Organs ◽  
Lipoid Proteinosis ◽  
Mucous Membranes ◽  
Healthy Control

Background: Lipoid proteinosis (LP) is an autosomal recessive transfer lysosomal storage disease that is characterized by the accumulation of hyalin substance in the mucous membranes, skin, internal organs, and brain. Thus far, no biochemical diagnostic method has been identified. Objective: The aim of this study was to determine the carnitine and acylcarnitine metabolic profiles of LP patients and to examine the potential of LC-MS/MS as a new biochemical method for the identification of biochemical markers. Methods: In this study, 27 carnitine and acylcarnitine esters were measured with LCMS/ MS in serum samples taken from 14 healthy control subjects and 14 patients. The patients, who presented at the Skin and Venereal Diseases Polyclinic, were diagnosed with LP on the basis of clinical, radiological, and histopathological examinations. Results: The results of the study showed that the C0 (free carnitine) C3, C4, C4:DC, C5DC, C6, C8, C14:1, C14:2, C16, and C18 acylcarnitines were statistically significantly reduced in the LP patients (p < 0.05, p < 0.01). Conclusion: It was concluded that the application of carnitine profile screening, an inexpensive, rapid, and reliable method, as a supporting laboratory test could make a contribution to the differential diagnosis for individuals with suspected LP.

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