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Clinical Genetics

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https://www.readbyqxmd.com/read/28503822/constitutional-mismatch-repair-deficiency-in-a-healthy-child-on-the-spot-diagnosis
#1
M Suerink, T P Potjer, A B Versluijs, S W Ten Broeke, C M Tops, K Wimmer, M Nielsen
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by bi-allelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy six-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503760/the-penetrance-of-paraganglioma-and-pheochromocytoma-in-sdhb-germline-mutation-carriers
#2
Johannes A Rijken, Nicolasine D Niemeijer, Marianne A Jonker, Karin Eijkelenkamp, Jeroen C Jansen, Anouk van Berkel, Henri J L M Timmers, Henricus P M Kunst, Peter H L T Bisschop, Michiel N Kerstens, Koen M A Dreijerink, Marieke F van Dooren, Anouk N A van der Horst-Schrivers, Frederik J Hes, C René Leemans, Eleonora P M Corssmit, Erik F Hensen
Germline mutations in SDHB predispose to hereditary paraganglioma syndrome type 4. The risk of developing paraganglioma (PGL) or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical genetics centers of the Netherlands, we have calculated the penetrance of SDHB associated tumors using a novel maximum likelihood estimator. This estimator addresses ascertainment bias and missing data on pedigree size and structure...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503735/wdr45b-related-intellectual-disability-spastic-quadriplegia-epilepsy-and-cerebral-hypoplasia-a-consistent-neurodevelopmental-syndrome
#3
Jehan Suleiman, Diane Allingham-Hawkins, Mais Hashem, Hanan Shamseddin, Fowzan S Alkuraya, Ayman W El-Hattab
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of two large cohorts of affected individuals. In this report we present six individuals from three unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in one family and c.673C>T (p...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28485889/mmp-family-polymorphisms-and-the-risk-of-aortic-aneurysmal-disease-a-systematic-review-and-meta-analysis
#4
REVIEW
Tan Li, Zhi Lv, Jing-Jing Jing, Jun Yang, Yuan Yuan
It has been suggested that matrix metalloproteinase (MMP) polymorphisms are associated with the pathogenesis of aortic aneurysmal diseases. In this study, we conducted a systematic review with an update meta-analysis to investigate the relationship between MMP family polymorphisms and aortic aneurysmal diseases. We systematically reviewed 24 polymorphisms in eight MMP genes related to the risk of abdominal aortic aneurysm (AAA), thoracic aortic aneurysm (TAA) or thoracic aortic dissection (TAD). A total of 19 case-control studies with 15 highly studied MMP polymorphisms were included in our meta-analysis...
May 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28485813/spectrum-of-mucocutaneous-ocular-and-facial-features-and-delineation-of-novel-presentations-in-62-classical-ehlers-danlos-syndrome-patients
#5
Marina Colombi, Chiara Dordoni, Marina Venturini, Claudia Ciaccio, Silvia Morlino, Nicola Chiarelli, Arianna Zanca, Piergiacomo Calzavara-Pinton, Nicoletta Zoppi, Marco Castori, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement that is defined by many criteria of the Villefranche nosology and the 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosae, face, and joint hypermobility. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age...
May 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28477354/a-de-novo-missense-mutation-in-slc12a5-found-in-a-compound-heterozygote-patient-with-epilepsy-of-infancy-with-migrating-focal-seizures
#6
T Saito, A Ishii, K Sugai, M Sasaki, S Hirose
Epilepsy of infancy with migrating focal seizures (EIMFS) is an infantile epileptic encephalopathy characterized by refractory seizures, severe psychomotor delay, and multiple moving epileptic discharges. The genetic etiology of EIMFS is relatively homogeneous with the majority of causative mutations found in KCNT1. Currently, gene panel or whole-exome sequencing is used for testing. To verify the pathogenicity of a variant, co-segregation of the variant and the disorder in a pedigree is important; hence, de novo mutations that are judged to be deleterious may be considered pathogenic because the patients are isolated...
May 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28471035/arl6ip1-mutation-causes-congenital-insensivity-to-pain-self-mutilation-and-spastic-paraplegia
#7
Mathilde Nizon, Sébastien Küry, Yann Péréon, Thomas Besnard, Delphine Quinquis, Pierre Boisseau, Thierry Marsaud, Armelle Magot, Jean-Marie Mussini, Emmanuelle Mayrargue, Sébastien Barbarot, Stéphane Bézieau, Bertrand Isidor
Hereditary sensory neuropathies (HSAN) type II are characterized by autosomal recessive inheritance, onset at birth and self-mutilating behavior. Here, we described a new patient with congenital insensitivity to pain, sensory neuropathy, self-mutilation, and spastic paraplegia. Whole exome sequencing showed a homozygous frameshift variant c.[577_580del], p.(Lys193Phefs*37) in ARL6IP1. The protein harbours reticulon-like short hairpin transmembrane domains and has a role in endoplasmic reticulum shaping. The variant causes an additional C-terminus hydrophobic domain which could disrupt its function...
May 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28456137/the-association-of-severe-encephalopathy-and-question-mark-ear-is-highly-suggestive-of-loss-of-mef2c-function
#8
Christopher T Gordon, Aude Tessier, Zeynep Demir, Alice Goldenberg, Myriam Oufadem, Norine Voisin, Véronique Pingault, Thierry Bienvenu, Stanislas Lyonnet, Loïc de Pontual, Jeanne Amiel
Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1-endothelin receptor type A signaling pathway. Animal models have highlighted the role of the transcription factor MEF2C as an effector of this pathway. We report heterozygous MEF2C loss-of-function as a possible cause of question mark ear associated with intellectual deficiency.
April 29, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28456002/multiple-spinal-nerve-enlargement-and-sos1-mutation-further-evidence-of-overlap-between-neurofibromatosis-type-1-and-noonan-phenotype
#9
Claudia Santoro, Teresa Giugliano, Mariarosa Anna Beatrice Melone, Mario Cirillo, Carla Schettino, Pia Bernardo, Giovanni Cirillo, Silverio Perrotta, Giulio Piluso
Neurofibromatosis type 1 (NF1) has long been considered a well-defined, recognizable monogenic disorder, with neurofibromas constituting a pathognomonic sign. This dogma has been challenged by recent descriptions of patients with enlarged nerves or paraspinal tumors, suggesting that neurogenic tumors and hypertrophic neuropathy may be a complication of Noonan syndrome with multiple lentigines or RASopathy phenotype. We describe a 15-year-old boy, whose mother previously received clinical diagnosis of NF1 due to presence of bilateral cervical and lumbar spinal lesions resembling plexiform neurofibromas and features suggestive of Noonan syndrome...
April 29, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28455998/new-mutations-in-gja8-expand-the-phenotype-to-include-total-sclerocornea
#10
Alan S Ma, John R Grigg, Ivan Prokudin, Maree Flaherty, Bruce Bennetts, Robyn V Jamieson
This project expands the disease spectrum for mutations in GJA8 to include total sclerocornea, rudimentary lenses and microphthalmia, in addition to this gene's previously known role in isolated congenital cataracts. Ophthalmic findings revealed bilateral total sclerocornea in three probands, with small abnormal lenses in two of the cases, and cataracts and microphthalmia in one case. Next-generation sequencing revealed de novo heterozygous mutations affecting the same codon of GJA8: (c.281G>A; p.(Gly94Glu) and c...
April 29, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436997/truncating-mutations-on-myofibrillar-myopathies-causing-genes-as-prevalent-molecular-explanations-on-patients-with-dilated-cardiomyopathy
#11
Alexandre Janin, Karine N'Guyen, Gilbert Habib, Claire Dauphin, Valérie Chanavat, Patrice Bouvagnet, Romain Eschalier, Streichenberger Nathalie, Philippe Chevalier, Gilles Millat
Dilated Cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. More than 40 genes have been reported to cause DCM. To provide new insights into the pathophysiology of dilated cardiomyopathy, a NGS workflow based on a panel of 48 cardiomyopathies-causing genes was used to analyze a cohort of 222 DCM patients. Truncating variants were detected on 63 unrelated DCM cases (28.4%). Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 DCM patients (7...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436599/metformin-as-targeted-treatment-in-fragile-x-syndrome
#12
Angel Belle C Dy, Flora Tassone, Marwa Eldeeb, María J Salcedo-Arellano, Nicole Tartaglia, Randi Hagerman
Individuals with Fragile X Syndrome (FXS) may be affected by several comorbid conditions, both behavioral and medical. Growth findings suggest that they are at an increased risk for obesity and overeating. The Prader-Willi phenotype (PWP) of FXS occurs in less than 10% of patients but it is associated with severe hyperphagia, lack of satiation and morbid obesity. Metformin is a drug used in individuals with high risk for diabetes type 2, obesity or impaired glucose tolerance. It has had a strong safety profile in children and adults with type 2 diabetes and obesity...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436541/pdx1-mody-and-dorsal-pancreatic-agenesis-new-phenotype-of-a-rare-disease
#13
L A Caetano, L S Santana, A D Costa-Riquetto, A M Lerario, M Nery, G F Nogueira, C D Ortega, M S Rocha, Aal Jorge, M G Teles
Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1-MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1. Pancreatic developmental anomalies related to PDX1 are reported only in neonatal diabetes cases. Here, we describe dorsal pancreatic agenesis in two patients with PDX1-MODY. The proband presented with diabetes since 14 years of age and maintained regular glycemic control with low doses of basal insulin and detectable C-peptide levels after 30 years with diabetes. A diagnosis of MODY was suspected...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#14
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#15
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28422281/wnk1-hsn2-founder-mutation-in-patients-with-hereditary-sensory-and-autonomic-neuropathy-a-japanese-cohort-study
#16
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Norio Sakai, Masanori P Takahashi, Takehiro Ueda, Akira Taniguchi, Sayaka Okamoto, Nobuo Kanazawa, Yuki Yamamoto, Kazumasa Saigoh, Susumu Kusunoki, Masahiro Ando, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
The clinical and genetic spectrum of hereditary sensory and autonomic neuropathy (HSAN) is still unknown in Japan. We collected a broad cohort of 33 unrelated patients with predominant sensory and/or autonomic dysfunctions, who were referred to our genetic laboratory. A gene panel sequencing targeting 18 HSAN-related genes was performed using a next-generation sequencing system. A recurrent frame shift mutation in the WNK1/HSN2 gene, c.3237_3238insT (p.Asp1080*), was detected in five patients. This mutation was homozygous in four cases and of a compound heterozygous genotype in one case...
April 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28407228/deleterious-protein-altering-mutations-in-the-scn10a-voltage-gated-sodium-channel-gene-are-associated-with-prolonged-qt
#17
Maen D Abou Ziki, Sara B Seidelmann, Emily Smith, Gourg Atteya, Yuexin Jiang, Rodolfo Gil Fernandes, Mark A Marieb, Joseph G Akar, Arya Mani
Long QT syndrome (LQT) is a pro-arrhythmogenic condition with life threatening complications. Fifteen genes have been associated with congenital LQT however, the genetic causes remain unknown in more than 20% of cases. Eighteen patients with history of palpitations, presyncope, syncope and prolonged QT were referred to the Yale Cardiovascular Genetics Program. All subjects underwent whole exome sequencing (WES) followed by confirmatory Sanger sequencing. Mutation burden analysis was carried out using WES data from sixteen subjects with no identifiable cause of LQT...
April 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28401540/two-novel-mylk-nonsense-mutations-causing-thoracic-aortic-aneurysms-dissections-in-patients-without-apparent-family-history
#18
LETTER
I Luyckx, D Proost, J M H Hendriks, J Saenen, E M Van Craenenbroeck, T Vermeulen, N Peeters, W Wuyts, I Rodrigus, A Verstraeten, L Van Laer, B L Loeys
No abstract text is available yet for this article.
April 12, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28397259/patient-understanding-of-genetic-information-influences-reproductive-decision-making-in-retinoblastoma
#19
A Foster, L Boyes, L Burgess, S Carless, V Bowyer, H Jenkinson, M Parulekar, J Ainsworth, J Hungerford, Z Onadim, M Sagoo, E Rosser, M A Reddy, T Cole
Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17-18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. Genetic testing in all cases enables accurate risk assessment and optimal clinical management for the affected individual, siblings, and future offspring. We carried out the first UK-wide audit of understanding of genetic testing in individuals with retinoblastoma. A total of 292 individuals aged 16-45 years were included...
April 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28393351/whole-exome-sequencing-identifies-a-homozygous-donor-splice-site-mutation-in-stag3-that-causes-primary-ovarian-insufficiency
#20
Wen-Bin He, Santasree Banerjee, Lan-Lan Meng, Juan Du, Fei Gong, Hui Huang, Xin-Xin Zhang, Yan-Yan Wang, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan
Primary ovarian insufficiency (POI) is the depletion or loss of normal ovarian function, which cause infertility in women before the age of 40 years. Two homozygous germline truncation mutations in STAG3 gene had been reported to causes POI in consanguineous families. Here, we aimed to identify the genetic cause of POI in two affected sisters manifested with primary amenorrhea and partial development of secondary sexual characters with normal range of height of a consanguineous Han Chinese family. Whole exome and Sanger sequencing identified a homozygous donor splice site mutation (NM_012447...
April 10, 2017: Clinical Genetics
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