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American Journal of Medical Genetics. Part A

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https://www.readbyqxmd.com/read/27901321/copy-number-variants-in-a-population-based-investigation-of-klippel-trenaunay-syndrome
#1
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Ruzong Fan, Paul A Romitti, Marilyn L Browne, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills
Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy number variants (CNVs). We identified 17 KTS cases from all live-births occurring in New York (1998-2010). Extracted DNA was genotyped using Illumina microarrays and CNVs were called using PennCNV software. CNVs selected for follow-up had ≥10 single nucleotide polymorphisms (SNPs) and minimal overlap with in-house controls or controls from the Database of Genomic Variants...
November 30, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27901313/crtap-variants-in-early-onset-osteoporosis-and-recurrent-fractures
#2
LETTER
Alice Costantini, Ilkka Vuorimies, Riikka Mäkitie, Mervi K Mäyränpää, Jutta Becker, Minna Pekkinen, Helena Valta, Christian Netzer, Anders Kämpe, Fulya Taylan, Hong Jiao, Outi Mäkitie
No abstract text is available yet for this article.
November 30, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27891766/a-novel-recurrent-lis1-splice-site-mutation-in-classic-lissencephaly
#3
LETTER
Marion Philbert, Camille Maillard, Mara Cavallin, Alice Goldenberg, Cecile Masson, Nathalie Boddaert, Adrienne El Morjani, Julie Steffann, Jamel Chelly, Xavier Gerard, Nadia Bahi-Buisson
No abstract text is available yet for this article.
November 27, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27888646/corner-fracture-type-spondylometaphyseal-dysplasia-overlap-with-type-ii-collagenopathies
#4
Keren Machol, Mahim Jain, Mohammed Almannai, Thibault Orand, James T Lu, Alyssa Tran, Yuqing Chen, Alan Schlesinger, Richard Gibbs, Luisa Bonafe, Ana Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Brendan H Lee, Philippe M Campeau, Lindsay C Burrage
Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in COL2A1. These two cases together with a third case of SMD corner fracture type with a heterozygous COL2A1 pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies...
November 26, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27888637/standing-on-the-shoulders-of-giants
#5
EDITORIAL
Maximilian Muenke
No abstract text is available yet for this article.
November 26, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27868373/acute-myeloid-leukemia-in-baraitser-winter-cerebrofrontofacial-syndrome
#6
Paola Cianci, Grazia Fazio, Sara Casagranda, Marco Spinelli, Carmelo Rizzari, Gianni Cazzaniga, Angelo Selicorni
Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part of the same phenotypic spectrum of Baraitser-Winter cerebrofrontofacial syndrome (BWCFF), which is characterized by facial dysmorphism, ocular coloboma, brain malformations, and intellectual disabilities. In addition to that, the recent discovery of missense mutations in one of the two ubiquitously expressed cytoplasmic β- and γ-acting-encoding genes ACTB (7p22...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27868354/high-incidence-of-bscl2-intragenic-recombinational-mutation-in-peruvian-type-2-berardinelli-seip-syndrome
#7
Nelson Purizaca-Rosillo, Takayasu Mori, Yamali Benites-Cóndor, Fuki M Hisama, George M Martin, Junko Oshima
Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli-Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27868350/an-elderly-jervell-and-lange-nielsen-patient-heterozygous-compound-for-two-new-kcnq1-mutations
#8
Eliecer Coto, Francisco J García-Fernández, David Calvo, Ricardo Salgado-Aranda, Javier Martín-González, Belén Alonso, Sara Iglesias, Juan Gómez
We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27868344/further-evidence-that-variants-in-ppp1cb-cause-a-rasopathy-similar-to-noonan-syndrome-with-loose-anagen-hair
#9
Regina M Zambrano, Michael Marble, Stuart A Chalew, Christian Lilje, Alfonso Vargas, Yves Lacassie
No abstract text is available yet for this article.
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27868338/incomplete-timothy-syndrome-secondary-to-a-mosaic-mutation-of-the-cacna1c-gene-diagnosed-using-next-generation-sequencing
#10
Amandine Baurand, Sylvie Falcon-Eicher, Gabriel Laurent, Elisabeth Villain, Caroline Bonnet, Christel Thauvin-Robinet, Caroline Jacquot, Jean-Christophe Eicher, Jean-Baptiste Gourraud, Sébastien Schmitt, Stéphane Bézieau, Mathilde Giraud, Solenne Dumont, Paul Kuentz, Vincent Probst, Antoine Burguet, Florence Kyndt, Laurence Faivre
Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27868325/novel-eed-mutation-in-patient-with-weaver-syndrome
#11
Erin Cooney, Weimin Bi, Alan E Schlesinger, Sherry Vinson, Lorraine Potocki
Weaver syndrome is a rare condition characterized by overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features. Pathogenic variants in EZH2, a histone methyltransferase, have previously been identified as a cause of Weaver syndrome. However, the underlying molecular cause in many patients remains unknown. We report a patient with a clinical diagnosis of Weaver syndrome whose exome was initially non-diagnostic. Reports in the medical literature of EED associated overgrowth prompted re-analysis of the patient's original exome data...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27865048/neuroligin-2-nonsense-variant-associated-with-anxiety-autism-intellectual-disability-hyperphagia-and-obesity
#12
Daniel J Parente, Caryn Garriga, Berivan Baskin, Ganka Douglas, Megan T Cho, Gabriel C Araujo, Marwan Shinawi
Neuroligins are post-synaptic, cellular adhesion molecules implicated in synaptic formation and function. NLGN2 is strongly linked to inhibitory, GABAergic signaling and is crucial for maintaining the excitation-inhibition balance in the brain. Disruption of the excitation-inhibition balance is associated with neuropsychiatric disease. In animal models, altered NLGN2 expression causes anxiety, developmental delay, motor discoordination, social impairment, aggression, and sensory processing defects. In humans, mutations in NLGN3 and NLGN4 are linked to autism and schizophrenia; NLGN2 missense variants are implicated in schizophrenia...
November 16, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862957/clinical-and-molecular-diagnosis-of-a-cartilage-hair-hypoplasia-with-igf-1-deficiency
#13
Inma Castilla-Cortázar, Julieta Rodríguez De Ita, Irene Martín-Estal, Fabiola Castorena, Gabriel A Aguirre, Rocío García de la Garza, Martha I Elizondo
Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862945/analysis-of-copy-number-variants-in-11-pairs-of-monozygotic-twins-with-neurofibromatosis-type-1
#14
Emily R Sites, Teresa A Smolarek, Lisa J Martin, David H Viskochil, David A Stevenson, Nicole J Ullrich, Ludwine M Messiaen, Elizabeth K Schorry
Phenotypic variability among individuals with neurofibromatosis type 1 (NF1) has long been a challenge for clinicians and an enigma for researchers. Members of the same family and even identical twins with NF1 often demonstrate variable disease expression. Many mechanisms for this variability have been proposed. We have performed an exploratory study of copy number variants (CNVs) as a possible source of phenotypic variability in NF1. We enrolled 11 pairs of monozygotic (MZ) twins with NF1 and their parents, catalogued their clinical characteristics, and utilized a single nucleotide polymorphism (SNP) microarray to identify CNVs in blood and saliva...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862928/maternally-derived-15q11-2-q13-1-duplication-in-a-child-with-lennox-gastaut-type-epilepsy-and-dysmorphic-features-clinical-genetic-characterization-of-the-family-and-review-of-the-literature
#15
LETTER
Alice Bonuccelli, Angelo Valetto, Alessandro Orsini, Angela Michelucci, Anna Rita Ferrari, Maurizio Elia, Veronica Bertini
No abstract text is available yet for this article.
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862906/characterization-of-pain-disability-and-psychological-burden-in-marfan-syndrome
#16
Traci J Speed, Vani A Mathur, Matthew Hand, Bryt Christensen, Paul D Sponseller, Kayode A Williams, Claudia M Campbell
The clinical manifestations of Marfan syndrome frequently cause pain. This study aimed to characterize pain in a cohort of adults with Marfan syndrome and investigate demographic, physical, and psychological factors associated with pain and pain-related disability. Two hundred and forty-five participants (73% female, 89% non-Hispanic white, 90% North American) completed an online questionnaire assessing clinical features of Marfan syndrome, pain severity, pain-related disability, physical and mental health, depressive symptoms, pain catastrophizing, and insomnia...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862890/de-novo-microdeletions-and-point-mutations-affecting-sox2-in-three-individuals-with-intellectual-disability-but-without-major-eye-malformations
#17
Nicola Dennert, Hartmut Engels, Kirsten Cremer, Jessica Becker, Eva Wohlleber, Beate Albrecht, Julia K Ehret, Hermann-Josef Lüdecke, Mohnish Suri, Giulia Carignani, Alessandra Renieri, Guido M Kukuk, Thomas Wieland, Joris Andrieux, Tim M Strom, Dagmar Wieczorek, Anne Dieux-Coëslier, Alexander M Zink
Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. Thus, anophthalmia/microphthalmia is the primary indication for targeted, "phenotype first" analyses of SOX2. However, SOX2 mutations are also associated with a wide range of non-ocular abnormalities, such as postnatal growth retardation, structural brain anomalies, hypogenitalism, and developmental delay...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862862/variability-in-clinical-and-neuropsychological-features-of-individuals-with-map2k1-mutations
#18
Elizabeth I Pierpont, Margaret Semrud-Clikeman, Mary Ella Pierpont
Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome. Here we describe two male patients (ages 16 and 20 years) with mutations in MAP2K1 and heterogeneous clinical presentations. Both young men had short stature, some facial features suggesting a RASopathy and minimal cardiac involvement. Detailed medical and neuropsychological findings are presented alongside a comprehensive review of features of patients with MAP2K1 mutations reported in the literature...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862896/homozygous-lipe-mutation-in-siblings-with-multiple-symmetric-lipomatosis-partial-lipodystrophy-and-myopathy
#19
Sagit Zolotov, Chao Xing, Riad Mahamid, Adel Shalata, Mohammed Sheikh-Ahmad, Abhimanyu Garg
Despite considerable progress in identifying causal genes for lipodystrophy syndromes, the molecular basis of some peculiar adipose tissue disorders remains obscure. In an Israeli-Arab pedigree with a novel autosomal recessive, multiple symmetric lipomatosis (MSL), partial lipodystrophy and myopathy, we conducted exome sequencing of two affected siblings to identify the disease-causing mutation. The 41-year-old female proband and her 36-year-old brother reported marked accumulation of subcutaneous fat in the face, neck, axillae, and trunk but loss of subcutaneous fat from the lower extremities and progressive distal symmetric myopathy during adulthood...
November 11, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27860360/homozygous-variants-in-pyrroline-5-carboxylate-reductase-2-pycr2-in-patients-with-progressive-microcephaly-and-hypomyelinating-leukodystrophy
#20
Linyan Meng, Taraka Donti, Fan Xia, Zhiyv Niu, Aisha Al Shamsi, Jozef Hertecant, Fatma Al-Jasmi, James B Gibson, Honey Nagakura, Jing Zhang, Weimin He, Christine Eng, Yaping Yang, Sarah H Elsea
Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM: 616420). Here, we report five additional patients from three families with homozygous nonsense or missense variants in PYCR2, identified through clinical exome sequencing. All patients presented with postnatally acquired microcephaly, moderate to profound global developmental delay, and failure to thrive...
November 11, 2016: American Journal of Medical Genetics. Part A
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