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American Journal of Medical Genetics. Part A

Jariya Upadia, Patrick R Gonzales, T Prescott Atkinson, Harry W Schroeder, Nathaniel H Robin, Natasha L Rudy, Fady M Mikhail
Phelan-McDermid syndrome (PMS, OMIM 606232) is a heterozygous contiguous gene microdeletion syndrome occurring at the distal region of chromosome 22q13. This deletion encompasses the SHANK3 gene at 22q13.33, which is thought to be the critical gene for the neurodevelopmental features seen in this syndrome. PMS is typically characterized by intellectual disability, autism spectrum disorder, absent to severely delayed speech, neonatal hypotonia, and dysmorphic features. Two patients presenting with classic clinical features of PMS have been reported to have interstitial microdeletions in the 22q13...
September 14, 2018: American Journal of Medical Genetics. Part A
Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, Ann M Joseph-George, Karen Chong, Ghada M H Abdel-Salam, Mohammed Alowain, Susan I Blaser, Blake C Papsin, Mohammed Butt, Mais Hashem, Nicole Martin, Ruth Godoy, Robert M Brosh, Fowzan S Alkuraya, David Chitayat
Warsaw breakage syndrome (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies, and sensorineural hearing loss. Only seven cases have been reported in the English literature, and thus the information on the phenotype and genotype of this interesting condition is limited. We provide clinical and molecular information on five additional unrelated patients carrying novel bi-allelic variants in the DDX11 gene, identified via whole exome sequencing...
September 14, 2018: American Journal of Medical Genetics. Part A
Michelle L Mackenzie, Lucila Triador, Jasmeena K Gill, Mohammadreza Pakseresht, Diana Mager, Catherine J Field, Andrea M Haqq
Dietary management is important to prevent severe obesity in individuals with Prader-Willi syndrome (PWS); however, few studies have examined dietary intake and quality in youth with PWS. Our objective was to estimate intake of essential nutrients and diet quality in youth with PWS compared to those without PWS. Three-day food records were used to estimate intake of energy, nutrients, nutrient-density, foods, and adherence to healthy eating guidelines. Data were presented as medians and interquartile ranges with Mann-Whitney U and Fisher's test used to compare between groups with p < ...
September 14, 2018: American Journal of Medical Genetics. Part A
Fiorentino Grasso, Emilia Cirillo, Giuseppe Quaremba, Vincenzo Graziano, Vera Gallo, Letizia Cruoglio, Carmine Botta, Claudio Pignata, Sergio Motta
Otorhinolaryngologic manifestations are common in 22q11.2 deletion syndrome (22q11.2DS), but poorly described. This study aimed to better define the ear-nose-throat (ENT) phenotype of 22q11.2DS patients, in the attempt to best detect subjects requiring subspecialist intervention. We enrolled 25 patients affected with 22q11.2DS. Anatomic and functional ENT findings were investigated using clinical, laboratory, and instrumental data. Immunophenotype and frequency of infections were evaluated. Univariate and multivariate analyses were performed...
September 12, 2018: American Journal of Medical Genetics. Part A
Masashi Uehara, Tomoki Kosho, Noriaki Yamamoto, Hideaki E Takahashi, Taketoshi Shimakura, Jun Nakayama, Hiroyuki Kato, Jun Takahashi
Musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14) is a recently delineated disorder, characterized by craniofacial, skeletal, visceral, and ocular malformations; and progressive cutaneous, skeletal, vascular, and visceral fragility-related manifestations. Spinal lesions, though one of the most serious complications, have not been investigated systematically. In this study, we report detailed and comprehensive information about spinal lesions of 12 patients with a mean age at the first visit of 13...
September 8, 2018: American Journal of Medical Genetics. Part A
Janet M Legare, Peggy Modaff, Samuel P Strom, Richard M Pauli, Heather L Bartlett
Geleophysic dysplasia is a rare skeletal dysplasia often complicated by progressive cardiac disease. Information about long-term outcomes is limited. A clinical update of the oldest surviving patient described with geleophysic dysplasia type 1 is provided. Special note is made in relation to the cardiac disease and interventions. Genetic testing of ADAMTSL2 revealed a previously reported missense mutation as well as a novel nonsense mutation, which can be added to the list of causative mutations in geleophysic dysplasia...
September 8, 2018: American Journal of Medical Genetics. Part A
Ania M Fiksinski, Maude Schneider, Clodagh M Murphy, Marco Armando, Stefano Vicari, Jaume M Canyelles, Doron Gothelf, Stephan Eliez, Elemi J Breetvelt, Celso Arango, Jacob A S Vorstman
The purpose of this article is to provide an overview of current insights into the neurodevelopmental and psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS) in children and adolescents. The pediatric neuropsychiatric expression of 22q11DS is characterized by high variability, both interindividual and intraindividual (different expressions over the lifespan). Besides varying levels of intellectual disability, the prevalence of autism spectrum disorders, attention deficit disorders, anxiety disorders, and psychotic disorders in young individuals with 22q11DS is significantly higher than in the general population, or in individuals with idiopathic intellectual disability...
September 8, 2018: American Journal of Medical Genetics. Part A
Marco Castori, Claus-Eric Ott, Luigi Bisceglia, Maria Pia Leone, Tommaso Mazza, Stefano Castellana, Jurgen Tomassi, Silvia Lanciotti, Stefan Mundlos, Raoul C Hennekam, Uwe Kornak, Francesco Brancati
Cadherins are cell-adhesion molecules that control morphogenesis, cell migration, and cell shape changes during multiple developmental processes. Until now four distinct cadherins have been implicated in human Mendelian disorders, mainly featuring skin, retinal and hearing manifestations. Branchio-skeleto-genital (or Elsahy-Waters) syndrome (BSGS) is an ultra-rare condition featuring a characteristic face, premature loss of teeth, vertebral and genital anomalies, and intellectual disability. We have studied two sibs with BSGS originally described by Castori et al...
September 8, 2018: American Journal of Medical Genetics. Part A
Parisa Hemati, Anya Revah-Politi, Haim Bassan, Slavé Petrovski, Colleen G Bilancia, Keri Ramsey, Nicole G Griffin, Louise Bier, Megan T Cho, Monica Rosello, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte Haug, Erin L Heinzen, Tristan T Sands, Vinodh Narayanan, Michelle Primiano, Vimla S Aggarwal, Francisca Millan, Shannon G Sattler-Holtrop, Alfonso Caro-Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y Kroes, Stephanie Sacharow, Nick Stong, Pablo Lapunzina, Michael C Schneider, Nancy J Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monica Weiss, Samantha Doyle, Alejandro Iglesias, Francisco Martinez, Fiona Mckenzie, Carmen Orellana, Koen L I van Gassen, Maria Palomares, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel-Vanagaite, Maria Hafström, Gunnar Houge, David B Goldstein, Kwame Anyane-Yeboa
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder phenotype. Consistent with previous reports, developmental delay in these patients was moderate to severe, and more than half of the patients were non-ambulatory and nonverbal. The most observed substitution affects the p...
September 8, 2018: American Journal of Medical Genetics. Part A
Filip Majer, Lenka Piherova, Martin Reboun, Veronika Stara, Ondrej Pelak, Patricia Norambuena, Viktor Stranecky, Alice Krebsova, Hana Vlaskova, Lenka Dvorakova, Stanislav Kmoch, Tomas Kalina, Milos Kubanek, Jakub Sikora
Danon disease (DD) is an X-linked disorder caused by mutations in the lysosomal-associated membrane protein 2 (LAMP2) gene (Xq24). DD is characterized by cognitive deficit, myopathy, and cardiomyopathy in male patients. The phenotype is variable and mitigated in females. The timely identification of de-novo LAMP2 mutated family members, many of whom are heterozygous females, remains critical for their treatment and family counseling. DD laboratory testing builds on minimally invasive quantification of the LAMP2 protein in white blood cells and characterization of the specific mutation...
September 8, 2018: American Journal of Medical Genetics. Part A
Mili Thakur, Elena Bronshtein, Michael Hankerd, Henry Adekola, Karoline Puder, Bernard Gonik, Salah Ebrahim
Terminal deletions of the chromosome 6q27 region are rare genomic abnormalities, linked to specific brain malformations and other neurological phenotypes. Reported cases have variable sized genomic deletions that harbor several genes including the DLL1 and TBP. We report on an inherited 0.38 Mb terminal deletion of chromosome 6q27 in a 22-week fetus with isolated bilateral ventriculomegaly and her affected mother using microarray-based comparative genomic hybridization and fluorescent in situ hybridization (FISH)...
September 8, 2018: American Journal of Medical Genetics. Part A
Hugo H Abarca Barriga, Nathaly Caballero, Milana Trubnykova, María Del Carmen Castro-Mujica, Jorge E La Serna-Infantes, Flor Vásquez, Raoul C Hennekam
Shawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH...
September 8, 2018: American Journal of Medical Genetics. Part A
Huy Hoang Nguyen, Van Anh Pham, Giulia Barcia, Valérie Malan, Kiem Lien Thi Nguyen, Diem Ngoc Ngo, Thu Hien Nguyen, Pierre Landrieu, Laurence Colleaux, Van Hai Nong, Lam Son Nguyen
The clinical presentation of distal duplications of the long arm of chromosome (chr) 16 is currently not well described. Only one case of microduplication of chr16q22.1 and another involving the chr16q22.1q23.1 region have been reported so far. Here, using array comparative genomic hybridization, we identified a second case of chr16q22.1q23.1 duplication in a Vietnamese boy, who shares significant clinical phenotype with the previously described case. Aside from developmental delay, intellectual disability and midface hypoplasia, our patient also displays a forked tongue, visual impairment and external ptosis...
September 4, 2018: American Journal of Medical Genetics. Part A
Michael Muriello, Julia L Clemens, Weiyi Mu, Phuong T Tran, Peter C Rowe, Christy H Smith, Clair Francomano, Joann Bodurtha, Antonie D Kline
The objective of this study was to explore the factors contributing to quality of life in pediatric patients with non-vascular Ehlers-Danlos syndromes (EDS). Data were analyzed on 41 children with a diagnosis of non-vascular EDS from the de-identified data available from the National Institute on Aging (NIA) study of heritable disorders of connective tissue. Children under age 19 years were seen as part of a long-term evaluation project from 2003 to 2013 on a larger natural history of patients with heritable disorders of connective tissue...
September 4, 2018: American Journal of Medical Genetics. Part A
Brooke D Saffren, Jenina E Capasso, Mario Zanolli, Alex V Levin
Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniofacial dysmorphism. Ocular abnormalities have infrequently been described. We report a 36-year-old man with severe intellectual disability, aphasia, and facial dysmorphism, with high myopia and juvenile open angle glaucoma (JOAG). Microarray analysis results included 47,XY,+der(22)t(11;22)(q23;q11.2), and a 269 kb deletion of 7q31.33(125,898,014-126,166,829). Two candidate genes were identified as possible etiologies for the ocular pathologies in our patient: a MFRP duplication on chromosome 11, which may play a role in high myopia and dysregulation of emmetropization, and a GRM8 deletion on chromosome 7, which may cause glutamate-induced excitotoxicity and therefore have a role in the development of JOAG, unrelated to the Emanuel syndrome genotype...
September 4, 2018: American Journal of Medical Genetics. Part A
Adam W Powell, John L Jefferies, Robert J Hopkin, Wayne A Mays, Zhiqian Goa, Clifford Chin
The cardiopulmonary exercise test (CPET) is a valuable tool to assess a patient's aerobic fitness and cardiac function, including the response to stress. There have been few studies using CPET to evaluate cardiopulmonary exercise capacity in patients with Fabry disease. We performed a retrospective chart review of patients with Fabry disease from 2001 to 2016, compared to age, gender, and size-matched normal controls. A total of 18 patients were evaluated using the Bruce protocol (treadmill) and 11 patients were evaluated with the ramp protocol (cycle ergometer)...
September 4, 2018: American Journal of Medical Genetics. Part A
Cathryn Poulton, Dimitar Azmanov, Vanessa Atkinson, John Beilby, Lisa Ewans, Dylan Gration, Lauren Dreyer, Vinutha Shetty, Ciara Peake, Emma McCormack, Richard Palmer, Barry Lewis, Hugh Dawkins, Stephanie Broley, Gareth Baynam
Silver-Russell syndrome (SRS OMIM 180860) is a rare, albeit well-recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%-70% of patients. We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of SRS, after extensive investigation she was referred to our undiagnosed disease program (UDP). Genomic sequencing was performed which identified a heterozygous splice site variant in IGF2 which is predicted to be pathogenic by in-silico studies, paternal allelic origin, de novo status, and RNA studies on fibroblasts...
August 27, 2018: American Journal of Medical Genetics. Part A
Majid Husain, Marina Dutra-Clarke, Bryan Lemieux, Marie Wencel, Benjamin D Solomon, Virginia Kimonis
The combination of vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies termed VACTERL association, also referred to as VATER, has been used as a clinical descriptor and more recently, a diagnosis of exclusion, for a specific group of phenotypic manifestations that have been observed to co-occur non-randomly. Though the causes remain elusive and poorly understood in most patients, VACTERL association is thought to be due to defects in early embryogenesis and is likely genetically heterogeneous...
August 27, 2018: American Journal of Medical Genetics. Part A
Eriko Nishi, Mizue Takasugi, Rie Kawamura, Soichi Shibuya, Shigeru Takamizawa, Takehiko Hiroma, Tomohiko Nakamura, Tomoki Kosho
Management of children with trisomy 13 (T13) is controversial because of a paucity of evidence of the natural history, especially focusing on efficacy of treatment. There has been no report regarding natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, although several reports have suggested efficacy of cardiac surgery. To describe the detailed and comprehensive natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, we reviewed clinical information of 24 children with full T13 (15 boys, 9 girls) who were admitted to Nagano Children's Hospital from 1994 to 2016...
August 27, 2018: American Journal of Medical Genetics. Part A
Shino Shimada, Kyoko Hirasawa, Akiko Takeshita, Hidetsugu Nakatsukasa, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto
Vici syndrome is a rare, autosomal recessive, multisystem disorder, characterized by agenesis of the corpus callosum, cataracts, psychomotor delay, cardiomyopathy, hypopigmentation, and recurrent infections. Mutations in the ectopic P-granules autophagy protein 5 homolog gene (EPG5), which encodes a key autophagy regulator, are responsible for this syndrome. A 3-year-old Japanese girl manifesting similar symptoms to those found in patients with Vici syndrome showed intractable diarrhea, rather than immunodeficiency...
August 27, 2018: American Journal of Medical Genetics. Part A
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