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https://www.readbyqxmd.com/read/29352102/teenage-onset-progressive-myoclonic-epilepsy-due-to-a-familial-c9orf72-repeat-expansion
#1
Jelle van den Ameele, Ivana Jedlickova, Anna Pristoupilova, Anne Sieben, Sara Van Mossevelde, Chantal Ceuterick-de Groote, Helena Hůlková, Radoslav Matej, Alfred Meurs, Christine Van Broeckhoven, Samuel F Berkovic, Patrick Santens, Stanislav Kmoch, Bart Dermaut
BACKGROUND: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important causal factor in several adult-onset neurodegenerative disorders, in particular frontotemporal lobar degeneration and amyotrophic lateral sclerosis. An association with PME has not been reported previously. OBJECTIVE: To identify the causative mutation in a Belgian family where the proband had genetically unexplained PME...
January 19, 2018: Neurology
https://www.readbyqxmd.com/read/29352010/genetics-of-syndromic-and-non-syndromic-mitral-valve-prolapse
#2
REVIEW
Thierry Le Tourneau, Jean Mérot, Antoine Rimbert, Solena Le Scouarnec, Vincent Probst, Hervé Le Marec, Robert A Levine, Jean-Jacques Schott
Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease...
January 19, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29351411/disruption-of-the-lens-circulation-causes-calcium-accumulation-and-precipitates-in-connexin-mutant-mice
#3
Junyuan Gao, Peter J Minogue, Eric C Beyer, Richard T Mathias, Viviana M Berthoud
The lens is an avascular organ whose function and survival depend on an internal circulation system. Cx46fs380 mice model a human autosomal dominant cataract caused by a mutant lens connexin. In these mice, fiber cell connexin levels and gap junction coupling are severely decreased. The present studies were conducted to examine components of the lens circulation system that might be altered and contribute to the pathogenesis of cataracts. Lenses from wild type mice and Cx46fs380 heterozygotes and homozygotes were studied at 2 months of age...
January 3, 2018: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29350766/untangling-the-complexity-of-limb-girdle-muscular-dystrophies
#4
REVIEW
Teerin Liewluck, Margherita Milone
Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with childhood-to-adult onset, manifesting with hip and shoulder girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically-identified muscular dystrophies with a LGMD phenotype not yet classified as LGMD...
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29349439/protein-c-deficiency-resulting-from-two-mutations-in-proc-presenting-with-recurrent-venous-thromboembolism
#5
Weijia Xie, Zhenjie Liu, Bing Chen
Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency due to the PROC mutations may cause recurrent VTE. Long-term anticoagulant therapy may be appropriate for these patients with recurrent VTE and hereditary PC deficiency...
December 2017: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29348906/an-ank1-ivs3-2a-c-mutation-causes-exon-4-skipping-in-two-patients-from-a-chinese-family-with-hereditary-spherocytosis
#6
Xiong Wang, Liyan Mao, Na Shen, Jing Peng, Yaowu Zhu, Qun Hu, Yanjun Lu
Hereditary spherocytosis (HS) is a congenital hemolytic anemia that affects the cell membrane of red blood cells and is characterized by the presence of spherical-shaped erythrocytes in the peripheral blood film. The clinical manifestation of HS ranges from asymptomatic to severe cases that require transfusion during early childhood. HS is caused by mutations in red blood cell membrane protein encoding genes, including ANK1, EPB42, SLC4A1, SPTA1, and SPTB. Mutations of the ANK1 gene account for 75% of all HS cases, and these particular mutations are typically inherited in an autosomal dominant manner...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348693/variants-in-members-of-the-cadherin-catenin-complex-cdh1-and-ctnnd1-cause-blepharocheilodontic-syndrome
#7
Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Annette F Baas, Corstiaan C Breugem, Karen Duran, Maarten Massink, Patrick W B Derksen, Wilfred F J van IJcken, Leontine van Unen, Fernando Santos-Simarro, Pablo Lapunzina, Vera L Gil-da Silva Lopes, Elaine Lustosa-Mendes, Max Krall, Anne Slavotinek, Victor Martinez-Glez, Jeroen Bakkers, Koen L I van Gassen, Annelies de Klein, Marie-José H van den Boogaard, Gijs van Haaften
Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex...
January 18, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29344814/nutritional-therapy-in-autosomal-dominant-polycystic-kidney-disease
#8
REVIEW
Biagio R Di Iorio, Adamasco Cupisti, Claudia D'Alessandro, Antonio Bellasi, Vincenzo Barbera, Luca Di Lullo
CKD-related nutritional therapy (NT) is a crucial cornerstone of CKD patients' treatment, but the role of NT has not been clearly investigated in autosomal dominant polycystic kidney disease (ADPKD). Several clinical studies have focused on new pharmacological approaches to delay cystic disease progression, but there are no data on dietary interventions in ADPKD patients. The aim of this paper is to analyze the evidence from the literature on the impact of five nutritional aspects (water, sodium, phosphorus, protein intake, and net acid load) in CKD-related ADPKD extrapolating-where information is unavailable-from what occurs in CKD non-ADPKD patients Sodium intake restriction could be useful in decreasing the growth rate of cysts...
January 17, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/29344140/familial-genetic-tuberous-sclerosis-complex-associated-with-bilateral-giant-renal-angiomyolipoma-a-case-report
#9
Lina Wang, Dawei Ni, Lin Zhong, Jianbo Wang
Tuberous sclerosis complex (TSC) is an autosomal dominant disease involving multiple organs, but there are a limited number of reports on family TSC. In the present report, a case of a 52-year-old female with a familial genetic TSC, associated with bilateral giant renal angiomyolipoma, was described. The mother, second elder brother and daughter of the patient all exhibited TSC, but the clinical manifestations, and therapeutic prognosis between the family members were not the same. The present case report aimed at identifying an effective diagnostic method and treatment through additional study of familial genetic TSC, in order to prolong and improve the quality of life for patients with TSC...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29343513/using-genetic-buffering-relationships-identified-in-fission-yeast-to-reveal-susceptibilities-in-cells-lacking-hamartin-or-tuberin-function
#10
Ashyad Rayhan, Adam Faller, Ryan Chevalier, Alannah Mattice, Jim Karagiannis
Tuberous sclerosis complex is an autosomal dominant disorder characterized by benign tumors arising from the abnormal activation of mTOR signaling in cells lacking TSC1 (hamartin) or TSC2 (tuberin) activity. To expand the genetic framework surrounding this group of growth regulators, we utilized the model eukaryote Schizosaccharomyces pombe to uncover and characterize genes that buffer the phenotypic effects of mutations in the orthologous tsc1 or tsc2 loci. Our study identified two genes: fft3 (encoding a DNA helicase) and ypa1 (encoding a peptidyle-prolyl cis/trans isomerase)...
January 17, 2018: Biology Open
https://www.readbyqxmd.com/read/29343472/clinical-spectrum-of-hemiplegic-migraine-and-chances-of-finding-a-pathogenic-mutation
#11
Nadine Pelzer, Joost Haan, Anine H Stam, Lisanne S Vijfhuizen, Stephany C Koelewijn, Amber Smagge, Boukje de Vries, Michel D Ferrari, Arn M J M van den Maagdenberg, Gisela M Terwindt
OBJECTIVE: To investigate whether the clinical characteristics of patients with hemiplegic migraine with and without autosomal dominant mutations in CACNA1A, ATP1A2, or SCN1A differ, and whether the disease may be caused by mutations in other genes. METHODS: We compared the clinical characteristics of 208 patients with familial (n = 199) or sporadic (n = 9) hemiplegic migraine due to a mutation in CACNA1A, ATP1A2, or SCN1A with those of 73 patients with familial (n = 49) or sporadic (n = 24) hemiplegic migraine without a mutation in these genes...
January 17, 2018: Neurology
https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#12
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29342448/generation-of-induced-pluripotent-stem-cell-line-cssi002-a-2851-from-a-patient-with-juvenile-huntington-disease
#13
Jessica Rosati, Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Barbara Torres, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Ferdinando Squitieri, Angelo Luigi Vescovi
Huntington Disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and behavioral features caused by a CAG expansion in the HTT gene beyond 35 repeats. The juvenile form (JHD) may begin before the age of 20years and is associated with expanded alleles as long as 60 or more CAG repeats. In this study, induced pluripotent stem cells were generated from skin fibroblasts of a 8-year-old child carrying a large size mutation of 84 CAG repeats in the HTT gene. HD appeared at age 3 with mixed psychiatric (i...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29342053/gradual-symmetric-progression-of-dfna34-hearing-loss-caused-by-an-nlrp3-mutation-and-cochlear-autoinflammation
#14
Hiroshi Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima, Julie A Muskett, H Jeffrey Kim, Carmen C Brewer, Andrew J Griffith
OBJECTIVE: To characterize the audiometric phenotype of autosomal-dominant DFNA34 hearing loss (HL) caused by a missense substitution in the NLRP3 gene. NLRP3 encodes a critical component of the NLRP3 inflammasome that is activated in innate immune responses. STUDY DESIGN: This study was conducted under protocol 01-DC-0229 approved by the NIH Combined Neurosciences IRB. We performed medical and developmental history interviews and physical and audiological examinations of affected individuals with DFNA34 HL caused by the p...
January 16, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29341362/a-novel-mutation-of-lrsam1-in-a-chinese-family-with-charcot-marie-tooth-disease
#15
Guohua Zhao, Jie Song, Mi Yang, Xiuhua Song, Xiaomin Liu
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy characterized by progressive distal muscle weakness and atrophy with decreased or absent tendon reflexes. Mutations in LRSAM1 have been identified to cause CMT disease type 2P. We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29340326/mtorc1-inhibition-is-an-effective-treatment-for-sporadic-renal-angiomyolipoma
#16
Oren Pleniceanu, Dorit Omer, Einat Azaria, Orit Harari-Steinberg, Benjamin Dekel
Introduction: Renal angiomyolipoma (AML) is the most common benign renal tumor. Despite a generally benign histology, AML can result in significant morbidity, from intra-abdominal hemorrhage and reduction in kidney function. While classically associated with the autosomal dominant disorder tuberous sclerosis complex (TSC) or with pulmonary lymphangioleiomyomatosis, most AMLs are sporadic. Mammalian target of rapamycin complex 1 (mTORC1) inhibitors (e.g., sirolimus) have been found to be effective in treating TSC- or lymphangioleiomyomatosis-associated AML, but to date it is unknown whether this strategy is effective for sporadic AML...
January 2018: KI Reports
https://www.readbyqxmd.com/read/29339962/three-new-pax2-gene-mutations-in-patients-with-papillorenal-syndrome
#17
Alberto Galvez-Ruiz, Anthony J Lehner, Alicia Galindo-Ferreiro, Patrik Schatz
Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic variant of the PAX2 gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for PAX2...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#18
REVIEW
Inga-Marie Schaefer, Jason L Hornick, Judith V M G Bovée
The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29339779/novel-recessive-mutations-in-msto1-cause-cerebellar-atrophy-with-pigmentary-retinopathy
#19
Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama, Chihiro Ohba, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto
Misato 1, mitochondrial distribution and morphology regulator (encoded by the MSTO1 gene), is involved in mitochondrial distribution and morphology. Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. Both autosomal dominant and recessive modes of inheritance have been suggested. We performed whole-exome sequencing in two unrelated patients showing cerebellar atrophy, intellectual disability, and pigmentary retinopathy...
January 16, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29339661/a-novel-foxl2-mutation-implying-blepharophimosis-ptosis-epicanthus-inversus-syndrome-type-i
#20
Fang Li, Peiwei Chai, Jiayan Fan, Xi Wang, Wenjuan Lu, Jin Li, Shengfang Ge, Renbing Jia, He Zhang, Xianqun Fan
BACKGROUND/AIMS: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure (POF). Functional study of novel mutations is especially critical for female patients, as it may allow the prediction of infertility and early planning of an appropriate therapy. METHODS: A clinical and molecular genetic investigation was performed in all members of a Chinese family with BPES...
January 15, 2018: Cellular Physiology and Biochemistry
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