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Application of Clinical Genetics

Bridget Kiely, Sujit Vettam, Andrew Adesman
Introduction: As technologies for identifying causal genetic variants in children with autism spectrum disorders (ASD) and other developmental conditions continue to advance, there is a need to understand the factors that influence parental beliefs about the causes of their child's disabilities. This study assessed the correlates of etiologic attributions among US parents of children with ASD, intellectual disability (ID), and/or developmental delay (DD). Methods: Data were obtained from the Centers for Disease Control and Prevention's nationally representative Survey of Pathways to Diagnosis and Services...
2019: Application of Clinical Genetics
Amine Rafik, Laila Rachad, Abdou-Samad Kone, Sellama Nadifi
Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial malformations observed. Several studies suggest that the decrease in folate has been associated with a higher risk of NSCL/P. The present study aimed to determine the association of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism gene with the occurrence of NSCL/P in the Moroccan population. Methods: MTHFR C677T was genotyped in 52 Moroccan patients and 182 unrelated controls, using a PCR followed by restriction fragment length polymorphism...
2019: Application of Clinical Genetics
João Paulo Oliveira, Susana Ferreira
Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient α-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enzyme activity (REA) and on the metabolic load of the disease, but organ susceptibility to damage varies widely, with heart appearing as the most vulnerable to storage pathology, even with relatively high REA. The expression of FD can be conceived as a multidomain phenotype, where each of the component domains is the laboratory or clinical expression of the causative GLA mutation along a complex pathophysiologic cascade pathway...
2019: Application of Clinical Genetics
Ophira Salomon, Ortal Barel, Eran Eyal, Reut Shnerb Ganor, Yeroham Kleinbaum, Mordechai Shohat
Introduction: Dysfibrinogenemia is a rare inherited disease that results from mutation in one of the three fibrinogen genes. Diagnosis can be misleading since it may present as a bleeding tendency or thrombosis and a specific coagulation test for diagnosis is not routinely available. Aim: To search for a new candidate gene of thrombophilia in a family with three generations of arterial and venous thrombosis. Methods: Whole exome sequencing followed by Sanger validation and segregation analysis was carried out...
2019: Application of Clinical Genetics
Athanasios Goumenos, Eirini Tsoutsou, Joanne Traeger-Synodinos, Dimitrios Petychakis, Maria Gavra, Aggeliki Kolialexi, Helena Frysira
Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated with the expression of CS. In this report, we describe two unrelated cases that presented with coronal CS. TCF12 sequencing analysis revealed novel frameshift nucleotide variants, which were evaluated as pathogenic according to the current guidelines for interpreting sequence variants...
2019: Application of Clinical Genetics
Rajni Kumrah, Babu Mathew, Pandiarajan Vignesh, Surjit Singh, Amit Rawat
Inborn errors of immunity usually not only result in immunodeficiency but may also manifest as immune dysregulation in the form of autoinflammation, autoimmunity, or sometimes malignancy. One of the most recently discovered monogenic disorder of immune dysregulation is COPA syndrome. COPA syndrome is an inherited autoimmune disorder caused by mutations in COPA gene. COPA gene encodes for α subunit of the COP1 protein, which is involved in the reverse vesicular protein transport from Golgi apparatus to the endoplasmic reticulum (ER)...
2019: Application of Clinical Genetics
Rosellina Margherita Mancina, Flaminia Ferri, Alessio Farcomeni, Antonio Molinaro, Angela Maffongelli, Monica Mischitelli, Edoardo Poli, Lucia Parlati, Maria Antonella Burza, Adriano De Santis, Fabio Attilia, Claudia Rotondo, Maria Margherita Rando, Maria Luisa Attilia, Mauro Ceccanti, Stefano Ginanni Corradini
Background: Alcoholic cirrhosis represents 1% of all cause-of-deaths worldwide. Its incidence is higher in males and results from the combination of environmental and genetic factors. Among all the genetic determinants of alcoholic cirrhosis, the patatin-like phospholipase domain protein 3 ( PNPLA3 ) rs738409 represents the most widely validated determinant. Recent cross-sectional studies on alcohol abusers identified transmembrane-6 superfamily member 2 ( TM6SF2 ) rs58542926, membrane bound O-acyltransferase domain containing 7 ( MBOAT7 ) rs641738, and cluster of differentiation 14 ( CD14 ) rs2569190 as new genetic risk factors for alcoholic cirrhosis...
2019: Application of Clinical Genetics
Kiyoshi Hayasaka, Chikahiko Numakura
Citrin deficiency is a recessively inherited metabolic disorder with age-dependent clinical manifestations. It causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Patients with NICCD present with intrahepatic cholestasis in the neonatal period and usually respond to the treatment with medium-chain triglyceride (MCT) supplement and lactose-restricted formula. In adulthood, CTLN2 develops in <10 % of the patients showing hyperammonemic encephalopathy. Patients with CTLN2 required liver transplantation for the most promising prognosis; however, they were successfully treated with MCT supplement with a low carbohydrate formula...
2018: Application of Clinical Genetics
Lady J Ríos-Serna, Lorena Díaz-Ordoñez, Estephania Candelo, Harry Pachajoa
Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed of radial ray anomaly. A novel de novo, potentially pathogenic variant in the TBX5 gene at NM_181486.2:c.243-1G>C was identified.
2018: Application of Clinical Genetics
Gabriela Caicedo-Herrera, Estephania Candelo, Juan Pinilla, Andrés Vidal, Santiago Cruz, Harry Mauricio Pachajoa
Background: Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities. Case presentation: We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Molecular test revealed a novel heterozygous mutation in exon 21 of the ATP7A gene. The genotype and phenotype of the patient were compared with those of the patients reported in the literature...
2018: Application of Clinical Genetics
Ahmed Abu-Siniyeh, Omar F Khabour, Arwa I Owais
Background: The congenital absence of one or few teeth, hypodontia, is considered one of the utmost dental ageneses in human beings. Several genes have been shown to be involved in the development of hypodontia such as paired box gene 9 ( PAX9 ). The expression of PAX9 is controlled by several polymorphic elements in the promoter region of the gene on 14q13.3 locus. The aim of this study was to find any association between PAX9 c.-912T>C (rs2073247) and c.-1031G>A (rs2073244) promoter polymorphisms and the development of hypodontia among the Jordanian population...
2018: Application of Clinical Genetics
John Bishara, Thomas G Keens, Iris A Perez
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine's curse, is due to a mutation in the PHOX2B gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Majority of the patients have a polyalanine repeat mutation (PARM) of the PHOX2B , while a small group has non-PARM (NPARM). Knowledge of the patient's PHOX2B gene mutation helps predict a patient's clinical presentation and outcome and aids in anticipatory management of the respiratory and ANS dysfunction...
2018: Application of Clinical Genetics
Abdulaziz Alsemari, Mohanned Alsuhaibani, Rawabi Alhathlool, Bayan Mamdouh Ali
The interaction of multiple genetic factors, as opposed to monogenic inheritance, has been suspected to play a role in many diseases. This interaction has been described as an oligogenic inheritance model, which may be a useful tool in explaining certain clinical observations. The purpose of this study was to search for novel genetic defects among members of a family with traits that include mental retardation, short stature, osteopetrosis, calcification of basal ganglia, and thinning of the corpus callosum...
2018: Application of Clinical Genetics
Paul Y Takahashi, Gregory D Jenkins, Benjamin P Welkie, Shannon K McDonnell, Jared M Evans, James R Cerhan, Janet E Olson, Stephen N Thibodeau, Mine S Cicek, Euijung Ryu
Purpose: In aging adults, mitochondrial dysfunction may be an important contributor. We evaluated the association between mitochondrial DNA (mtDNA) copy number, which is a biomarker for mitochondrial function, and self-rated health status. Patients and methods: We conducted a cross-sectional study of patients enrolled within the Mayo Clinic Biobank. We utilized the questionnaire and sequence data from 944 patients. We examined the association between mtDNA copy number and self-rated health status with 3 collapsed categories for the latter variable (excellent/very good, good, and fair/poor)...
2018: Application of Clinical Genetics
Sumaiya Adam, Melantha Coetzee, Engela Magdalena Honey
Pena-Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary hypoplasia. Antenatal diagnosis can be difficult. Ultrasound features are varied and may overlap with those of Trisomy 18. The poor prognosis of PSS is due to pulmonary hypoplasia, which is an important feature that distinguishes PSS from arthrogryposis multiplex congenital without pulmonary hypoplasia, which has a better prognosis...
2018: Application of Clinical Genetics
Saud Alsahli, Dalal K Bubshait, Zuhair A Rahbeeni, Majid Alfadhel
Gaucher disease is the most common sphingolipid storage disease and is present in all ethnic groups. Its symptoms span all systems including the cardiovascular system. The health care provider should be vigilant regarding this potentially fatal complication. Gaucher disease type IIIC has been linked to causing oculomotor apraxia and cardiac calcification. We report a Saudi girl who developed valvular and aortic calcification in late childhood and died as a result of her cardiovascular complications. This report further strengthens the association and reminds the clinicians that patients with D409H mutation need echocardiographic evaluation annually...
2018: Application of Clinical Genetics
Anas A Yousef, Eman G Behiry, Wafaa M Abd Allah, Ahmed M Hussien, Abdelmoneam A Abdelmoneam, Mahmoud H Imam, Doaa M Hikal
Background: Insulin receptor substrate (IRS) molecules are key mediators in insulin signaling. Several polymorphisms in the IRS genes have been identified, but only the Gly to Arg 972 substitution of IRS-1 seems to have a pathogenic role in the development of type 2 diabetes mellitus (T2DM). Many polymorphisms described in IRS-1 gene, especially Gly972Arg substitution, are shown to be associated with insulin resistance (IR) in T2DM. Subjects and methods: This prospective case-control study was performed during the period from November 2014 to May 2015...
2018: Application of Clinical Genetics
Thaise Nr Carneiro, Ana Cv Krepischi, Silvia S Costa, Israel Tojal da Silva, Angela M Vianna-Morgante, Renan Valieris, Suzana Am Ezquina, Debora R Bertola, Paulo A Otto, Carla Rosenberg
Introduction: Exome sequencing is recognized as a powerful tool for identifying the genetic cause of intellectual disability (ID). It is uncertain, however, whether only the exome of the proband should be sequenced or if the sequencing of parental genomes is also required, and the resulting increase in diagnostic yield justifies the increase in costs. Patients and methods: We sequenced the exomes of eight individuals with sporadic syndromic ID and their parents...
2018: Application of Clinical Genetics
Marina Guinda Ribeiro, Gabriella Lucato Zunta, Jéssica Silva Santos, Aparecida Machado Moraes, Carmen Silvia Passos Lima, Manoela Marques Ortega
Xeroderma pigmentosum is a rare autosomal recessive genetic disease characterized by extreme sensitivity due to solar radiation and deficiency in excision repair DNA. Those factors promote a set of skin abnormalities such as keratosis, hyperpigmentation, tumors in areas exposed to sunlight, and ocular and, eventually, neurological disorders. In the present review, we summarize the main clinical features related to a case of xeroderma pigmentosum in a man who was not diagnosed until he was 45 years old.
2018: Application of Clinical Genetics
Mohammed M El Shafae, Jehan H Sabry, Eman G Behiry, Hanan H Sabry, Mona A Salim, Alaaeldin G Fayez
Background: The microdeletion events that occur in the Y chromosome-azoospermia factor ( AZF ) region may lead to dyszoospermia. Also, the deleted azoospermia ( DAZ ) gene on AZFc and autosomal deleted azoospermia like gene ( DAZL ) are suggested to represent impairment, so it is interesting to determine the independency pattern of the AZF region and DAZL gene in azoospermic patients. Aim: To study the molecular characterization of AZFc and DAZL in 64 idiopathic non-obstructed azoospermia patients and 30 sexually reproductive men...
2018: Application of Clinical Genetics
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