Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes by Kosei Hasegawa, Hiroyuki Tanaka, Natsuko Futagawa, Hiroyuki Miyahara, Hirokazu Tsukahara

Get full text

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine by Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon

Get full text

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy by M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel

“…This genetic confirmation widens geographical distribution of ABCD1-associated disease, and illustrates recognisability of this disorder, even when encountered in a low-resource environment.…”
Get full text

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

Get full text

Characterization of novel human endogenous retrovirus structures on chromosomes 6 and 7 by Nicholas Pasternack, Nicholas Pasternack, Ole Paulsen, Avindra Nath

“…Future studies need to determine if these polymorphisms determine genetic susceptibility to diseases that are associated with them.…”
Get full text

Mutation in the COL2A1 gene is associated with acetabular dysplasia by Miaomiao Xin, Xin Guan, Xin Guan, Jiangfei Yang, Yi Li, Zhentao Man, Hongsheng Sun, Min Fu

“…BackgroundDevelopmental dysplasia of the hip (DDH) is one of the most common developmental disorders worldwide, caused by a combination of genetic and environmental factors.MethodsTo investigate the genetic etiology of DDH in a proband (a 27-year-old male), we reviewed the patient’s clinical data and collected peripheral blood samples from the proband and his parents. …”
Get full text

Fitness landscapes of human microsatellites. by Ryan J Haasl, Bret A Payseur

“…Despite this progress, most population genetic methods for characterizing selection assume that variants mutate in a simple manner and at a low rate. …”
Get full text

Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights by Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Xuemei Li, Li Wang, Li Wang, Li Wang, Li Wang, Qian Li, Qian Li, Qian Li, Qian Li, Qianqian Liu, Qianqian Liu, Qianqian Liu, Qianqian Liu, Chengyin He, Li Zhang, Li Zhang, Li Zhang, Li Zhang, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Junling Tang, Junling Tang, Junling Tang, Junling Tang

“…BackgroundHereditary spherocytosis (HS) is a group of genetically heterogeneous hereditary hemolytic disorders characterized by anemia, splenomegaly, jaundice, reticulocytosis, and spherical red blood cells on peripheral blood smears. …”
Get full text

The Cul3 ubiquitin ligase engages Insomniac as an adaptor to impact sleep and synaptic homeostasis. by Qiuling Li, Kayla Y Lim, Raad Altawell, Faith Verderose, Xiling Li, Wanying Dong, Joshua Martinez, Dion Dickman, Nicholas Stavropoulos

Get full text

Novel risk loci encompassing genes influencing STAT3, GPCR, and oxidative stress signaling are associated with co-morbid GERD and COPD. by Ava C Wilson, Alison Rocco, Joe Chiles, Vinodh Srinivasasainagendra, Wassim Labaki, Deborah Meyers, Bertha Hidalgo, Marguerite R Irvin, Surya P Bhatt, Hemant Tiwari, Merry-Lynn McDonald

“…Rare variants in ZFP42, encoding key regulators of the IL6/STAT3 pathway, have been previously implicated with GI disorders and were associated with co-morbid GERD and COPD. …”
Get full text

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians by Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry

“…Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. …”
Get full text

Behçet Disease-Like Symptoms with a Novel COPA Mutation by E. Anderson, J. Hatch, J. Cardinal, D. Langguth, D. Coman

Get full text

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia by Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, Ahmad A. Obaid

Get full text

Delayed Diagnosis of McCune–Albright Syndrome by Bereket Fantahun, Seblewongel Desta

“…McCune–Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. …”
Get full text

A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation by Ana Isabel Sánchez, Jorge Armando Rojas

Get full text

Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature by Amal Al-Naimi, Haneen Toma, Sara G. Hamad, Tawfeg Ben Omran

“…Farber disease (FD) is an extremely rare autosomal recessive disorder caused by the deficiency of lysosomal acid ceramidase. …”
Get full text

De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome by Rafat Mosalli, Alfia Fatma, Mohammed A. Almatrafi, Mayada Mazroua, Bosco Paes

Get full text

Bioinformatics screening and clinical validation of CircRNA and related miRNA in male osteoporosis by Jiayi Li, Sijia Guo, Qingyun Sun, Ning An, Jisheng Lin, Qi Fei

Get full text

Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures by Caitlin C. Clements, Anne-Michelle Engelstad, Carol L. Wilkinson, Carly Hyde, Megan Hartney, Alexandra Simmons, Helen Tager-Flusberg, Shafali Jeste, Charles A. Nelson

“…Abstract Background Tuberous Sclerosis Complex (TSC) is a rare genetic condition caused by mutation to TSC1 or TSC2 genes, with a population prevalence of 1/7000 births. …”
Get full text

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease by Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra

Get full text