scholarly journals Enteroendocrine Dysfunction in Two Saudi Sisters

2021 ◽  
pp. 290-295
Author(s):  
Amna Basheer M. Ahmed ◽  
Badr M. Rasheed Alsaleem
Keyword(s):  
Early Diagnosis ◽  
Effective Treatment ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Proprotein Convertase ◽  
Whole Exome ◽  
Osmotic Diarrhea ◽  
Symptoms And Signs

Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (PCSK1). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocrinopathies. Only few cases have been reported in the literature; we have add two female sisters with some difference in clinical progress. Herein, we describe two sisters with congenital osmotic diarrhea diagnosed with PC1/3 deficiency, causing malabsorptive diarrhea and enteroendocrine dysfunction, who presented with chronic enteropathy with hypernatremia but with different expressivity. PC1/3 deficiency presents with symptoms and signs that mimic glucose-galactose malabsorption. Because of the clinical paucity and heterogeneity of congenital enteropathies, whole-exome sequencing may be of great help towards early diagnosis and effective treatment.

scholarly journals DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

2014 ◽  
Vol 04 (03) ◽  
pp. 121-123
Author(s):  
Rathika D. Shenoy ◽  
Deepthi R. V. ◽  
Nutan Kamath ◽  
Sumana J. Kamath
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Sjögren Syndrome ◽  
Sjogren Syndrome ◽  
Cerebellar Hypoplasia ◽  
Psychomotor Delay ◽  
Neuro Imaging ◽  
Childhood Cataract

AbstractWe report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran

2016 ◽  
Vol 29 (8) ◽  
Author(s):  
Mahnaz Seifi-Alan ◽  
Roshanak Shamsi ◽  
Aria Setoodeh ◽  
Fatemeh Sayarifard ◽  
Parisa Aghasi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder ◽  
Autoimmune Regulator ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyendocrinopathy

AbstractAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (

scholarly journals NECROSE CUTANEE REVELANT UN DEFICIT CONGENITAL EN PROTEINE C : A PROPOS DE 3 CAS

2021 ◽  
Vol 9 (03) ◽  
pp. 80-83
Author(s):  
S. Halouani ◽  
◽  
W. Kojmane ◽  
F. Hmami ◽  
S. Atmani ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Replacement Therapy ◽  
Disseminated Intravascular Coagulation ◽  
Skin Necrosis ◽  
Protein C ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Protein C Deficiency ◽  
Neonatal Skin ◽  
Protein C Activity

Neonatal skin necrosis in the context of a congenital homozygous protein C deficiency is a rare inherited autosomal recessive disorder, it is characterized by rapidly extensive necrotic patches occurring a few hours after birth in a newborn who doesnt present any hemodynamic disorder. The diagnosis is based on the assay of protein C activity which is collapsed or even undetectable. Early diagnosis and replacement therapy are the mainstays of management before the onset of disseminated intravascular coagulation. We report three cases of newborns presenting with DIC in the context of protein C deficiency and the course of which was fatal.

scholarly journals Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yue Shen ◽  
Hao Wang ◽  
Zhimin Liu ◽  
Minna Luo ◽  
Siyu Ma ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Autosomal Recessive Inheritance ◽  
Joubert Syndrome ◽  
Causative Gene ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Syndrome Individual

Abstract Background Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. Case presentation A two-year-old boy was diagnosed with Joubert syndrome by global development delay and molar tooth sign of mid-brain. Whole exome sequencing was performed to detect the causative gene variants in this individual, and the candidate pathogenic variants were verified by Sanger sequencing. We identified two pathogenic variants (NM_006346.2: c.1147delC and c.1054A > G) of PIBF1 in this Joubert syndrome individual, which is consistent with the mode of autosomal recessive inheritance. Conclusion In this study, we identified two novel pathogenic variants in PIBF1 in a Joubert syndrome individual using whole exome sequencing, thereby expanding the PIBF1 pathogenic variant spectrum of Joubert syndrome.

scholarly journals Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension

2021 ◽  
Vol 9 ◽  
Author(s):  
Yi-Ting Lu ◽  
Di Zhang ◽  
Xin-Chang Liu ◽  
Qiong-Yu Zhang ◽  
Xue-Qi Dong ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Neurofibromatosis Type 1 ◽  
Early Onset ◽  
Family Members ◽  
Neurofibromatosis Type ◽  
Chinese Families ◽  
Whole Exome

Background: Neurofibromatosis type 1 (NF-1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. It is characterized by multiple café-au-lait macules, cutaneous neurofibromas, optic glioma, Lisch nodules, and axillary and inguinal freckling. The aim of this study was to investigate NF1 mutations in two Chinese families with NF-1 who presented with early-onset hypertension, and to determine the prevalence of hypertension associated with NF-1 to better understand this complication.Methods: Whole-exome sequencing was performed for the probands with NF-1 from two unrelated families. Possible pathogenic mutation was predicted by bioinformatic tools. Sanger sequencing was used to confirm candidate variants in all available individuals for familial co-segregation analysis. We also performed a systematic literature review of studies that reported the prevalence of hypertension in patients with NF-1.Results: In family 1, a recurrent mutation c.6789_6792delTTAC in NF1 was identified in the proband but in no other family members, indicating that this is a de novo mutation. In family 2, a novel mutation c.6934_6936delGCAinsTGCT in NF1 was detected in the proband and two other family members, which co-segregated with the disease phenotype within the family. Both mutations were predicted to be pathogenic by bioinformatic analysis. We found hypertension was a relatively common complication of NF-1, with a prevalence range of 6.1–23.4%. Ambulatory blood pressure monitoring is a stable method for detecting initial alterations of the blood pressure pattern, particularly for pre-hypertension.Conclusions: We identified one recurrent (c.6789_6792delTTAC) and one novel frame-shift mutation (c.6934_6936delGCAinsTGCT) in two unrelated families with NF-1 using whole-exome sequencing. In consideration of phenotypic heterogeneity in NF-1, genetic testing is a robust tool which helps early and accurate diagnosis. Because hypertension is not a rare complication of NF-1, routine screening for hypertension in patients with NF-1, especially children and adolescents, is important to avoid serious cardiovascular events.

3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Radha Rama Devi Akella
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Missense Variant ◽  
Postnatal Growth ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Whole Exome ◽  
Heterozygous Variant

Abstract Objective To evaluate the cause of short stature in children. Case presentation Two children with suspected skeletal dysplasia and short stature were evaluated. Conclusions The 3-M syndrome is a primordial growth disorder manifesting severe postnatal growth restriction, skeletal anomalies and prominent fleshy heels. The 3-M syndrome is a genetically heterogeneous disorder and the phenotype is similar. This is a rare autosomal recessive disorder with normal intellect. Two affected children have been identified by whole-exome sequencing. One patient harboured a compound heterozygous variant and the other was a homozygous missense variant. The genetic diagnosis helped in counselling the families and facilitated prenatal diagnosis in one (case 1) family.

scholarly journals Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Tatyana Gavrilova
Keyword(s):  
Primary Immunodeficiency ◽  
Autosomal Recessive Disorder ◽  
Primary Immunodeficiency Disorder ◽  
Biallelic Mutation ◽  
Polyglandular Autoimmune Syndrome ◽  
Whole Exome ◽  
Immunodeficiency Disorder ◽  
Life Threatening ◽  
Polyglandular Autoimmune Syndrome Type

Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the AIRE gene is responsible for APECED. The author presents a case of APECED with a single AIRE mutation. Whole exome sequencing identified a mutation in the BTNL2 gene that the author suggests may have contributed to the patient’s presentation.

scholarly journals MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro

2016 ◽  
Vol 310 (6) ◽  
pp. L519-L531 ◽  
Author(s):  
Saket Ahuja ◽  
Lars Knudsen ◽  
Shashi Chillappagari ◽  
Ingrid Henneke ◽  
Clemens Ruppert ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Alveolar Epithelial Cell ◽  
Critical Role ◽  
Autosomal Recessive Disorder ◽  
Lamellar Bodies ◽  
Wild Type ◽  
Alveolar Epithelial ◽  
Hermansky Pudlak Syndrome

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, and some patients with HPS develop pulmonary fibrosis, known as HPS-associated interstitial pneumonia (HPSIP). We have previously reported that HPSIP is associated with severe surfactant accumulation, lysosomal stress, and alveolar epithelial cell type II (AECII) apoptosis. Here, we hypothesized that defective autophagy might result in excessive lysosomal stress in HPSIP. Key autophagy proteins, including LC3B lipidation and p62, were increased in HPS1/2 mice lungs. Electron microscopy demonstrated a preferable binding of LC3B to the interior of lamellar bodies in the AECII of HPS1/2 mice, whereas in wild-type mice it was present on the limiting membrane in addition to the interior of the lamellar bodies. Similar observations were noted in human HPS1 lung sections. In vitro knockdown of HPS1 revealed increased LC3B lipidation and p62 accumulation, associated with an increase in proapoptotic caspases. Overexpression of LC3B decreased the HPS1 knockdown-induced p62 accumulation, whereas rapamycin treatment did not show the same effect. We conclude that loss of HPS1 protein results in impaired autophagy that is restored by exogenous LC3B and that defective autophagy might therefore play a critical role in the development and progression of HPSIP.

scholarly journals A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
S. Pusti ◽  
N. Das ◽  
K. Nayek ◽  
S. Biswas
Keyword(s):  
Glutaric Acid ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Glutaric Aciduria Type ◽  
Tandem Mass ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Striatal Degeneration ◽  
Childhood Infection

Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. We report two such cases with macrocephaly, typical MRI pictures, and tandem mass spectrometry suggestive of glutaric aciduria type 1.

scholarly journals A Case Report on Autoimmune Polyendocrine SyndromeType 1

2014 ◽  
Vol 15 (1) ◽  
pp. 98-101 ◽  
Author(s):  
Md. Yusuf Ali ◽  
H M Rashiduzzaman ◽  
Mahadi Masud ◽  
Md. Abdul Wadud ◽  
Sadia Quadir ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Dental Enamel ◽  
Autosomal Recessive Disorder ◽  
Primary Hypothyroidism ◽  
Chronic Mucocutaneous Candidiasis ◽  
Nail Dystrophy ◽  
Mucocutaneous Candidiasis ◽  
Autoimmune Polyendocrine Syndrome ◽  
Dental Enamel Hypoplasia

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder characterized by autoimmune multiorgan dysfunction. The major components of APS type 1 are chronic mucocutaneous candidiasis,hypoparathyroidism and Addison’s disease.To establish this syndrome, at least two of these conditions have to be present. We report here one of such case, a 15-year old boy who presented with features of chronic mucocutaneous candidiasis, hypoparathyroidism, primary hypothyroidism,nail dystrophy and dental enamel hypoplasia that were consistent with APS-1.DOI: http://dx.doi.org/10.3329/jom.v15i1.19886 J Medicine 2014; 15: 98-101

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