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American Journal of Medical Genetics. Part A

Maoqing Ye, Lian Xu, Mengxia Fu, Dongrui Chen, Teresa Mattina, Orsetta Zufardi, Elena Rossi, Kevin T Bush, Sanjay K Nigam, Paul Grossfeld
Ets-1 is a member of the Ets family of transcription factors and has critical roles in multiple biological functions. Structural kidney defects occur at an increased frequency in Jacobsen syndrome (OMIM #147791), a rare chromosomal disorder caused by deletions in distal 11q, implicating at least one causal gene in distal 11q. In this study, we define an 8.1 Mb "critical region" for kidney defects in Jacobsen syndrome, which spans ~50 genes. We demonstrate that gene-targeted deletion of Ets-1 in mice results in some of the most common congenital kidney defects occurring in Jacobsen syndrome, including: duplicated kidney, hypoplastic kidney, and dilated renal pelvis and calyces...
November 13, 2018: American Journal of Medical Genetics. Part A
Aya Abu-El-Haija, Jeff Fineman, Andrew J Connolly, Priyanka Murali, Luke M Judge, Anne M Slavotinek
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) describes a group of developmental disorders affecting the lungs with its pulmonary vasculature. Mutations in the FOXF1 gene have been reported in most cases, and extrapulmonary findings were described. We present two patients with ACDMPV and FOXF1 mutations that illustrate the variability in presentation and outcome of their disease. Patient 1 was a full-term infant with imperforate anus and pulmonary hypertension. He required Extracorporeal Membrane Oxygenation on day of life (DOL) 3, and passed away on DOL 13 after no clinical improvement...
October 31, 2018: American Journal of Medical Genetics. Part A
Martina Čaplovičová, Veronika Moslerová, Ján Dupej, Milan Macek, Dana Zemková, Eva Hoffmannová, Markéta Havlovicová, Jana Velemínská
Three-dimensional (3D) virtual facial models facilitate genotype-phenotype correlations and diagnostics in clinical dysmorphology. Within cross-sectional analysis of both genders we evaluated facial features in representative cohorts of Czech patients with Williams-Beuren-(WBS; 12 cases), Noonan-(NS; 14), and 22q11.2 deletion syndromes (22q11.2DS; 20) and compared their age-related developmental trajectories to 21 age, sex and ethnically matched controls in 3-18 years of age. Using geometric morphometry statistically significant differences in facial morphology were found in all cases compared to controls...
October 31, 2018: American Journal of Medical Genetics. Part A
Cory J Smid, Peggy Modaff, Adekemi Alade, Janet M Legare, Richard M Pauli
Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. Other disorders arising from constitutive activation of FGFR3 also manifest AN at various frequencies. We assessed the prevalence of AN in a sequential series of 477 individuals with achondroplasia. Using a REDCap database, we collected and analyzed what other features or medical issues may co-occur with AN in those with achondroplasia. AN arises in approximately 10% of individuals with achondroplasia...
October 31, 2018: American Journal of Medical Genetics. Part A
C Lemattre, J Thevenon, Y Duffourd, S Nambot, E Haquet, B Vuadelle, D Genevieve, P Sarda, A L Bruel, P Kuentz, C F Wells, L Faivre, M Willems
Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de novo TBL1XR1 variant (c.1337A > G; p.Tyr446Cys) has been identified in eight patients by whole-exome sequencing. A dominant-negative effect of this mutation is strongly suspected, since patients with TBL1XR1 deletion and other variants predicting loss of function do not share the same phenotype. We report two patients with typical Pierpont-like syndrome features...
October 26, 2018: American Journal of Medical Genetics. Part A
Adam M Hyde, Frank A Chavoya, Fabiano V Silveira, William C Beam, Daniela A Rubin
No abstract text is available yet for this article.
October 22, 2018: American Journal of Medical Genetics. Part A
Sarah L Dugan, Emanuele Panza, Amanda Openshaw, Lorenzo D Botto, Jose A Camacho, Reha M Toydemir
Interstitial deletions of chromosome 9q31 are very rare. The deletions in most reported patients have been detected by conventional cytogenetics, with reported breakpoints ranging between 9q21 and 9q34. Therefore, an accurate description of a "9q31 deletion syndrome" could not be established. However, based on microarray studies, a small region of overlap has recently been proposed. We report clinical features of two unrelated individuals with overlapping 9q deletions identified by SNP microarray analysis...
October 22, 2018: American Journal of Medical Genetics. Part A
Rachel Rabin, Francisca Millan, Juan Cabrera-Luque, John Pappas
The GATA zing finger domain-containing protein 2B (GATAD2B) gene encodes the p66beta protein, a subunit of the MeCP1-Mi2/ nucleosome remodeling and deacetylase complex, which is involved in transcription regulation and chromatin remodeling. Pathogenic variants in the GATAD2B gene have recently been associated with a recognizable neurodevelopmental syndrome, characterized by intellectual disability, limited speech, childhood hypotonia, and dysmorphic features. The majority of reported patients resulted from de novo loss of function (LOF) variants...
October 22, 2018: American Journal of Medical Genetics. Part A
Varun Takyar, Divya Khattar, Alexander Ling, Rachna Patel, Julie C Sapp, Sun A Kim, Sungyoung Auh, Leslie G Biesecker, Kim M Keppler-Noreuil, Theo Heller
Proteus syndrome (PS) is a rare disorder caused by a mosaic AKT1 variant that comprises patchy overgrowth of tissues derived from all three germinal layers affecting multiple viscera. We sought to delineate the extent of hepatoportal manifestations in patients with PS. We identified patients with PS who had abdominal imaging from 1989 to 2015 in a natural history study. Imaging was characterized for evidence of focal findings in the liver, spleen, and portal vasculature and for organomegaly. Relevant clinical and laboratory data were compared among those with or without organomegaly...
October 22, 2018: American Journal of Medical Genetics. Part A
Mario Mastrangelo, Manuela Tolve, Martina Martinelli, Sofia P Di Noia, Elena Parrini, Vincenzo Leuzzi
The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026.2:c.820G>A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest...
October 22, 2018: American Journal of Medical Genetics. Part A
Jasmien Roosenboom, Robert Hermans, Frederik Lammens, Jean Louis Samain, Koen Devriendt, Vincent Vander Poorten, Peter W Hellings, Mark Jorissen, Hilde Peeters, Peter Claes, Greet Hens
Nonsyndromic orofacial clefting is one of the most frequently occurring congenital conditions. The aim of the study was to investigate the prevalence and nature of reduced olfactory function in patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P) and their unaffected first-degree relatives. Olfactory function was tested using the Sniffin' Sticks identification test in patients with NSCL/P, in their unaffected relatives, and in control subjects. MR imaging was performed to measure olfactory bulb (OB) volumes and olfactory sulcus (OS) depths...
October 22, 2018: American Journal of Medical Genetics. Part A
Nicole J Boczek, Carrie A Lahner, Thuy-Mi Nguyen, Matthew J Ferber, Linda Hasadsri, Erik C Thorland, Zhiyv Niu, Ralitza H Gavrilova
Wolf-Hirschhorn syndrome (WHS) is a microdeletion syndrome characterized by distinctive facial features consisting of "Greek warrior helmet" appearance, prenatal and postnatal growth deficiency, developmental disability, and seizures. This disorder is caused by heterozygous deletions on chromosome 4p16.3 often identified by cytogenetic techniques. Many groups have attempted to identify the critical region within this deletion to establish which genes are responsible for WHS. Herein, clinical whole exome sequencing (WES) was performed on a child with developmental delays, mild facial dysmorphisms, short stature, failure to thrive, and microcephaly, and revealed a de novo frameshift variant, c...
October 22, 2018: American Journal of Medical Genetics. Part A
Ameera Balobaid, Tawfeg Ben-Omran, Khushnooda Ramzan, Ruqaiah Altassan, Mariam Almureikhi, Sara Musa, Nadia Al-Hashmi, Mohammed Al-Owain, Hamad Al-Zaidan, Zuhair Al-Hassnan, Faiqa Imtiaz, Moeenaldeen Al-Sayed
Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol biosynthesis. The cardinal features of HPMRS4 include; characteristic facial features, severe intellectual disability and various neurologic abnormalities. We report here detailed clinical, biochemical, and molecular findings of 14 patients clinically suspected to have HPMRS4, from three Middle-Eastern Countries; Saudi Arabia, Qatar, and Oman. All patients in our series presented with the cardinal features pointing to HPMRS4 and with an elevated alkaline phosphatase level...
October 22, 2018: American Journal of Medical Genetics. Part A
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Jaime Cruz-Rojo, Lucía Garzón-Lorenzo, Patricia Carnicero-Rodríguez, Jaime Sánchez-Del Pozo, Francisco Martínez-Azorín
We report the clinical and genetic findings in a 15-year-old Spanish boy presenting prenatal and postnatal growth retardation, reduced subcutaneous adipose tissue, premature skin wrinkling, sparse hair, short distal phalanges with small nails, umbilical hernia, wide anterior fontanel, and normal cognitive and motor development. Exome sequencing uncovered a heterozygous mutation in SLC25A24 (NM_013386: c.650G>A: p.R217H) that encodes for the calcium-binding mitochondrial carrier protein SCaMC-1. This gain-of-function variant has been previously associated with Fontaine syndrome and Gorlin-Chaudhry-Moss syndrome, two entities that show overlapping features, and have been recently subsumed under the name Fontaine progeroid syndrome (FPS; MIM: 612289) in OMIM...
October 17, 2018: American Journal of Medical Genetics. Part A
Alina T Midro, Beata Stasiewicz-Jarocka, Jan Borys, Kazimierz Kozłowski, Bożena Skotnicka, Eugeniusz Tarasów, Ewa Hubert, Jerzy Konstantynowicz, Barbara Panasiuk, Małgorzata Rydzanicz, Agnieszka Pollak, Piotr Stawiński, Rafał Skowroński, Rafał Płoski
We present a natural history of a 32-year-old man with Hajdu-Cheney syndrome (HJCYS), because of the de novo truncating mutation in the exon 34 of NOTCH2 (c.6424-6427delTCTG, p.Ser2142ArgfsX4), who has been followed up for a period of 23 years (between 9 and 32 years). During follow-up, we observed abnormalities of vision, hearing, voice, and progression of craniofacial features in the form of skeletal dysplasia with affected skull, dentition, spine, limbs, fingers, and toes. Low bone mineral density and history of fragility fractures also suggested primary osteoporosis being a clinical manifestation...
October 17, 2018: American Journal of Medical Genetics. Part A
Pascaline Létard, Fabien Guimiot, Céline Dupont, Jonathan Rosenblatt, Anne-Lise Delezoide, Suonavy Khung-Savatovsky
Trisomy 13 or Patau syndrome (PS) is a well-known aneuploidy characterized by a polymalformative syndrome. We described a large series of fetuses with PS and compared them with cases described in the literature, most of which were live-born. In all, 42 fetuses, aged from 14 to 41 gestational weeks (GW), were examined. The main defects observed were similar to those described in live-born patients: congenital heart defects (76%), holoprosencephaly spectrum anomalies including arhinencephaly and hypotelorism (74%), urinary tract anomalies (71%), ear anomalies (69%), postaxial polydactyly (67%), anogenital anomalies (60%), anophthalmos, and/or microphthalmos (53%), brachycephaly (45%), and oro-facial clefts (45%)...
October 17, 2018: American Journal of Medical Genetics. Part A
Katherine A Rauen, Lisa Schoyer, Lisa Schill, Beth Stronach, John Albeck, Brage S Andresen, Hélène Cavé, Michelle Ellis, Steven M Fruchtman, Bruce D Gelb, Christopher C Gibson, Karen Gripp, Erin Hefner, William Y C Huang, Maxim Itkin, Bronwyn Kerr, Corinne M Linardic, Martin McMahon, Beverly Oberlander, Ethan Perlstein, Nancy Ratner, Leslie Rogers, Annette Schenck, Suma Shankar, Stanislav Shvartsman, David A Stevenson, Edward C Stites, Philip J S Stork, Cheng Sun, Marc Therrien, Erik M Ullian, Brigitte C Widemann, Erika Yeh, Giuseppe Zampino, Martin Zenker, William Timmer, Frank McCormick
This report summarizes and highlights the fifth International RASopathies Symposium: When Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies comprise a recognizable pattern of malformation syndromes that are caused by germ line mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. Because of their common underlying pathogenetic etiology, there is significant overlap in their phenotypic features, which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, gastrointestinal and ocular abnormalities, neurological and neurocognitive issues, and a predisposition to cancer...
October 10, 2018: American Journal of Medical Genetics. Part A
Rahul M Nikam, Karen W Gripp, Arabinda K Choudhary, Vinay Kandula
Multiple mitochondrial dysfunction syndrome (MMDS) is a rare disorder of systemic energy metabolism associated with mutations in genes having a vital role in production of iron-sulfur clusters, important for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases and for the assembly of the mitochondrial respiratory chain complexes. MMDS 2 associated with BOLA3 mutation presents in early infancy and is characterized by developmental regression, severe encephalopathy, optic atrophy, and cardiomyopathy...
October 10, 2018: American Journal of Medical Genetics. Part A
Jason C Carson, Lori Hoffner, Laura Conlin, W Tony Parks, Rosemary A Fisher, Nancy Spinner, Svetlana A Yatsenko, Jeffrey Bonadio, Urvashi Surti
Triploidy is the presence of an extra haploid set of chromosomes and can exist in complete or mosaic form. The extra haploid set of chromosomes in triploid cells can be of maternal or paternal origin. Diploid/triploid mixoploidy is a unique form of triploid mosaicism that requires the aberrant segregation of entire parental genomes into distinct blastomere lineages (heterogoneic cell division) at the earliest zygotic divisions. Here we report on eight cases of diploid/triploid mixoploidy from our institution and conduct a comprehensive review of the literature...
October 10, 2018: American Journal of Medical Genetics. Part A
John McCarthy, Philip J Lupo, Erin Kovar, Megan Rech, Bret Bostwick, Daryl Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A Schrier Vergano, Edward Lose, Robert Smiegel, Yves Lacassie, Christian P Schaaf
Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life but becomes increasingly distinct throughout childhood and adolescence. Here, we describe the phenotype of an international cohort of 78 patients with nonsense or frameshift mutations in MAGEL2...
October 10, 2018: American Journal of Medical Genetics. Part A
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