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American Journal of Medical Genetics. Part A

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https://www.readbyqxmd.com/read/28052552/celsr2-encoding-a-planar-cell-polarity-protein-is-a-putative-gene-in-joubert-syndrome-with-cortical-heterotopia-microophthalmia-and-growth-hormone-deficiency
#1
Thierry Vilboux, May Christine V Malicdan, Joseph C Roney, Andrew R Cullinane, Joshi Stephen, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Peter J Steinbach, William A Gahl, Meral Gunay-Aygun
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity...
January 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28019079/is-cutis-verticis-gyrata-intellectual-disability-syndrome-an-underdiagnosed-condition-a-case-report-and-review-of-62-cases
#2
Arianna Tucci, Lidia Pezzani, Giulietta Scuvera, Luisa Ronzoni, Elisa Scola, Susanna Esposito, Donatella Milani
Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed after puberty. First reported in 1893, the syndrome was mainly identified in subjects living in psychiatric institutions, where it was found to have a prevalence of up to 11.4%. Most patients were reported in the literature during the first half of the 20th century. CVG-ID is now a less reported and possibly under-recognized syndrome...
December 25, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28019075/surviving-with-trisomy-13-provider-and-parent-perspectives-and-the-role-of-the-pediatric-palliative-care-program
#3
Duc Chung, Kristina Haynes, Russell Haynes
Trisomy 13 typically denotes an overall poor prognosis in the setting of multisystem anomalies. Through a provider and parent perspective, this case illustrates the benefit of hope, communication, and teamwork through the integration of a palliative care team in the care of a medically complex child with trisomy 13, resulting in enhance survival and perceived quality of life for patient and family. © 2016 Wiley Periodicals, Inc.
December 25, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27966292/out-of-pocket-medical-costs-and-third-party-healthcare-costs-for-children-with-down-syndrome
#4
Andrew Kageleiry, David Samuelson, Mei Sheng Duh, Patrick Lefebvre, John Campbell, Brian G Skotko
Prior analyses have estimated the lifetime total societal costs of a person with Down syndrome (DS); however, no studies capture the expected medical costs that patients with DS can expect to incur during childhood. The study utilized the OptumHealth Reporting and Insights administrative claims database from 1999 to 2013. Children with a diagnosis of DS were identified, and their time was divided into clinically relevant age categories. Patients with DS in each age category were matched to controls without chromosomal conditions...
December 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27901313/crtap-variants-in-early-onset-osteoporosis-and-recurrent-fractures
#5
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/27888646/corner-fracture-type-spondylometaphyseal-dysplasia-overlap-with-type-ii-collagenopathies
#6
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/27868350/an-elderly-jervell-and-lange-nielsen-patient-heterozygous-compound-for-two-new-kcnq1-mutations
#7
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/27862945/analysis-of-copy-number-variants-in-11-pairs-of-monozygotic-twins-with-neurofibromatosis-type-1
#8
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/27792865/much-ado-about-something-2-reflections-on-the-state-of-the-american-journal-of-medical-genetics-2016
#9
EDITORIAL
John C Carey
No abstract text is available yet for this article.
October 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#10
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102597/non-european-populations-still-underrepresented-in-genomic-testing-samples-dearth-of-african-american-latino-and-other-non-european-groups-contributes-to-healthcare-research-disparities
#11
(no author information available yet)
No abstract text is available yet for this article.
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#12
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102595/-they-can-t-find-anything-wrong-with-him-yet-mothers-experiences-of-parenting-an-infant-with-a-prenatally-diagnosed-copy-number-variant-cnv
#13
Allison Werner-Lin, Sarah Walser, Frances K Barg, Barbara A Bernhardt
Chromosome microarray (CMA) testing is used widely in prenatal settings. Some copy number variants (CNVs) detected using CMA are associated with variable or uncertain phenotype and/or possible neurocognitive involvement. Little is known about parenting an infant following such findings. Researchers conducted interviews with 23 mothers of infants diagnosed prenatally with a potentially pathogenic CNV to elicit perspectives on the child's development and disclosure of results to others. Interviews were audiotaped and analyzed for common themes...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102594/in-this-issue
#14
(no author information available yet)
No abstract text is available yet for this article.
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102593/a-case-for-cannabidiol-in-wolf-hirschhorn-syndrome-seizure-management
#15
Karen S Ho, E Robert Wassman
Complex, and sometimes intractable, seizures affect the quality of life and cognitive development of over 90% of individuals with Wolf-Hirschhorn syndrome (WHS). Fine resolution genotype-phenotype mapping of the WHS locus recently identified a candidate gene whose probable function has led to insights into a mechanism connecting WHS seizures with those of Dravet syndrome, a distinct condition caused by mutations in SCN1A and SCN1B. In addition to this possible molecular mechanistic connection, these disorders' seizures share a strikingly similar constellation of features, including clinical presentation, seizure types, early age of onset, EEG pattern, and responses to specific anti-epileptic drugs...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102592/six-uneventful-pregnancy-outcomes-in-an-extended-vascular-ehlers-danlos-syndrome-family
#16
Annette F Baas, Wilko Spiering, Frans L Moll, Lieve Page-Christiaens, Ingrid C M Beenakkers, Dennis Dooijes, Evert-Jan P A Vonken, Jasper J van der Smagt, Nine V Knoers, Steven V Koenen, Joost A van Herwaarden, Gertjan Tj Sieswerda
Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102591/hyperinsulinemic-hypoglycemia-in-beckwith-wiedemann-sotos-and-kabuki-syndromes-a-nationwide-survey-in-japan
#17
Naoko Toda, Kenji Ihara, Kanako Kojima-Ishii, Masayuki Ochiai, Kazuhiro Ohkubo, Yutaka Kawamoto, Yoshinori Kohno, Sakae Kumasaka, Akihiko Kawase, Yasuhisa Ueno, Takeshi Futatani, Tokuo Miyazawa, Yuko Nagaoki, Setsuko Nakata, Maiko Misaki, Hiroko Arai, Masahiko Kawai, Maki Sato, Yukari Yada, Nobuhiro Takahashi, Atsushi Komatsu, Kanemasa Maki, Shinichi Watabe, Yutaka Sumida, Makoto Kuwashima, Hiroshi Mizumoto, Kazuo Sato, Toshiro Hara
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that may be complicated with HH, however, the detailed clinical characteristics of HH accompanied with these syndromes remain unclear. We herein conducted a nationwide questionnaire survey in Japan. We sent a primary questionnaire concerning the clinical experience for these syndromes to 347 perinatal care institutions...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102590/resolving-different-interpretations-of-gene-variants-boosts-effective-use-of-test-results-sharing-data-is-crucial-to-improving-patient-care-and-genetics-research
#18
(no author information available yet)
No abstract text is available yet for this article.
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102589/cover-image-volume-173a-number-2-february-2017
#19
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
The cover image, by Carl Ernst et al., is based on the Original Article Implication of LRRC4C and DPP6 in neurodevelopmental disorders, DOI: 10.1002/ajmg.a.38021.
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27901321/copy-number-variants-in-a-population-based-investigation-of-klippel-trenaunay-syndrome
#20
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...
February 2017: American Journal of Medical Genetics. Part A
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