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VOLUME 161A • NUMBER 10 • OCTOBER 2013

table of contentsTHE AJMG SEQUENCE-DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY

BY DEBORAH LEVENSON

vii Small Study Finds Big Yield for Whole Genome Sequencing in Autism Diagnosis

viii Opitz Award Paper Spotlights Brain Overgrowth Syndromes

x In This Issue

NEW SYNDROME

2401 Intellectual Disability, Unusual Facial Morphology and Hand Anomalies in Sibs

Sérgio B. Sousa, Margarida Venâncio, Estelle Chanudet, Rodger Palmer, Lina Ramos, Philip L. Beales, Gudrun E. Moore, Jorge M. Saraiva, and Raoul C. HennekamPublished online 15 August 2013

RESEARCH ARTICLES

2407 Brain Magnetic Resonance Imaging Findings in Smith–Lemli–Opitz Syndrome

Ryan W.Y. Lee, Sandra K. Conley, Andrea Gropman, Forbes D. Porter, and Eva H. BakerPublished online 5 August 2013

2420 Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome With Loose

Anagen Hair: Structural Brain Anomalies and Myelofi brosis

Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, and Katia Sol-ChurchPublished online 5 August 2013

2431 Timing of Diagnosis of Patients With Pompe Disease: Data From the Pompe Registry

Priya S. Kishnani, Hernán M. Amartino, Christopher Lindberg, Timothy M. Miller, Amanda Wilson, Joan Keutzer, and on behalf of the Pompe Registry Boards of AdvisorsPublished online 30 August 2013

2444 Risk and Protective Factors in the Origin of Conotruncal Defects of Heart—A Population-Based

Case–Control Study

Melinda Csáky-Szunyogh, Attila Vereczkey, Zsolt Kósa, Balázs Gerencsér, and Andrew E. CzeizelPublished online 15 August 2013

2453 Growth Hormone, Gender and Face Shape in Prader–Willi Syndromert

Mauren Abreu de Souza, Catherine McAllister, Michael Suttie, Concetta Perrotta, Teresa Mattina, Francesca Faravelli, Francesca Forzano, Anthony Holland, and Peter HammondPublished online 5 August 2013

INVITED COMMENT

2464 Autism and Epistemology IV: Does Autism Need a Theory of Mind?

Gene S. FischPublished online 16 August 2013

RESEARCH ARTICLES

2481 Prevalence of Beckwith–Wiedemann Syndrome in North West of Italy

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Nicoletta Chiesa, Cristina Molinatto, Angelo Selicorni, Lorenzo Richiardi, Lidia Larizza, Margherita Cirillo Silengo, Andrea Riccio, and Giovanni Battista FerreroPublished online 5 August 2013

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2487 Screening and Familial Characterization of Copy-Number Variations in NR5A1 in 46,XY

Disorders of Sex Development and Premature Ovarian Failure

Steven M. Harrison, Ian M. Campbell, Melise Keays, Candace F. Granberg, Carlos Villanueva, Grace Tannin, Andrew R. Zinn, Diego H. Castrillon, Chad A. Shaw, Pawel Stankiewicz, and Linda A. BakerPublished online 5 August 2013

2495 Germline Mosaicism Does Not Explain the Maternal Age Effect on Trisomy

Ross Rowsey, Anna Kashevarova, Brenda Murdoch, Carrie Dickenson, Tracey Woodruff, Edith Cheng, Patricia Hunt, and Terry HassoldPublished online 15 August 2013

2504 Osteogenesis Imperfecta, Tricho-Dento-Osseous Syndrome and Intellectual Disability: A Familial

Case With 17q21.33-q22 (COL1A1 and DLX3) Deletion and 7q32.3-q33 Duplication Resulting From a

Reciprocal Interchromosomal Insertion

Radu Harbuz, Frédéric Bilan, Dominique Couet, Valérie Charraud, Alain Kitzis, and Brigitte Gilbert-DussardierPublished online 15 August 2013

2512 Survival of Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome) in England and Wales:

2004–2011

Jianhua Wu, Anna Springett, and Joan K. MorrisPublished online 15 August 2013

2519 Redefi ning the Progeroid Form of Ehlers–Danlos Syndrome: Report of the Fourth Patient With

B4GALT7 Defi ciency and Review of the Literature

Michael H. Guo, Joan Stoler, Julian Lui, Ola Nilsson, Diana W. Bianchi, Joel N. Hirschhorn, and Andrew DauberPublished online 16 August 2013

2528 A Novel SOX9 H169Q Mutation in a Family With Overlapping Phenotype of Mild Campomelic

Dysplasia and Small Patella Syndrome

Masaki Matsushita, Hiroshi Kitoh, Hiroshi Kaneko, Kenichi Mishima, Izumi Kadono, Naoki Ishiguro, and Gen NishimuraPublished online 16 August 2013

2535 Search for Genetic Modifi ers of IRF6 and Genotype–Phenotype Correlations in Van der Woude and

Popliteal Pterygium Syndromes

Elizabeth J. Leslie, Jennifer L. Mancuso, Brian C. Schutte, Margaret E. Cooper, Kate M. Durda, Jamie L’Heureux, Theresa M. Zucchero, Mary L. Marazita, and Jeffrey C. MurrayPublished online 15 August 2013

2545 Analysis of Susceptibility Loci for Nonsyndromic Orofacial Clefting in a European Trio Sample

Anne C. Böhmer, Elisabeth Mangold, Peter Tessmann, Peter A. Mossey, Regine P. Steegers-Theunissen, Jan Lindemans, Marieke Bouwman-Both, Michele Rubini, Paola Franceschelli, Vincenzo Aiello, Borut Peterlin, Anne M. Molloy, Markus M. Nöthen, Michael Knapp, and Kerstin U. LudwigPublished online 16 August 2013

CLINICAL REPORTS

2550 Macrophage Involvement in Mitral Valve Pathology in Mucopolysaccharidosis Type VI

(Maroteaux–Lamy Syndrome)

Marion Brands, Jorine Roelants, Ronald de Krijger, Ad Bogers, Arnold Reuser, Ans van der Ploeg, and Wim HelbingPublished online 15 August 2013

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2554 The Phenotype Range of Achondrogenesis 1A

Giedre Grigelioniene, Stefan Geiberger, Nikos Papadogiannakis, Outi Mäkitie, Gen Nishimura,Ann Nordgren, and Peter ConnerPublished online 16 August 2013

2559 Structural Chromosomal Abnormalities Detected During CVS Analysis and Their Role in the Prenatal

Ascertainment of Cryptic Subtelomeric Rearrangements

Maria Carla Pittalis, Angela Mattarozzi, Cristina Menozzi, Michela Malacarne, Ilaria Baccolini, Antonio Farina, Eva Pompilii, Pamela Magini, and Antonio PercesepePublished online 6 August 2013

2564 Interstitial 12p13.1 Deletion Involving GRIN2B in Three Patients With Intellectual Disability

Sarra Dimassi, Joris Andrieux, Audrey Labalme, Gaétan Lesca, Marie-Pierre Cordier, Odile Boute, Dorothée Neut, Patrick Edery, Damien Sanlaville, and Caroline Schluth-BolardPublished online 5 August 2013

2570 Three Patients Resembling Teebi–Shaltout Syndrome

Ozgur Aldemir, Samim Ozen, Sevcan Erdem, Aslihan Kiraz, Nurten Akarsu, and Yasemin AlanayPublished online 5 August 2013

2576 Co-Occurrence of 22q11 Deletion Syndrome and HDR Syndrome

Ryoko Fukai, Nobuhiko Ochi, Akira Murakami, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naomichi Matsumoto, and Noriko MiyakePublished online 5 August 2013

2582 De Novo 15q13.3 Microdeletion With Cryptogenic West Syndrome

Elodie Lacaze, Nicolas Gruchy, Marie-José Penniello-Valette, Ghislaine Plessis, Nicolas Richard, Mathieu Decamp, Hervé Mittre, Nathalie Leporrier, Joris Andrieux, Marie-Laure Kottler, and Marion GerardPublished online 8 August 2013

2588 Two Somali Half-Siblings With CHST3-Related Chondrodysplasia Illustrating the Phenotypic

Spectrum and Intrafamilial Variability

George A Tanteles, Abhijit Dixit, Sunil Dhar, and Mohnish SuriPublished online 5 August 2013

2594 De Novo Complex X Chromosome Rearrangement Unmasking Maternally Inherited CSF2RA

Deletion in a Girl With Pulmonary Alveolar Proteinosis

Julie Auger, Céline Bonnet, Mylène Valduga, Christophe Philippe, Emmanuelle Bertolo-Houriez, Mylène Beri-Dexheimer, Cyril Schweitzer, Bruno Leheup, and Philippe JonveauxPublished online 5 August 2013

2600 A Transient Myelodysplastic/Myeloproliferative Neoplasm in a Patient With Cardio-Facio-Cutaneous

Syndrome and a Germline BRAF Mutation

Kazuhito Sekiguchi, Tomoki Maeda, So-ichi Suenobu, Nobutaka Kunisaki, Miki Shimizu, Kyoko Kiyota, Yo-suke Handa, Kensuke Akiyoshi, Seigo Korematsu, Yoko Aoki, Yoichi Matsubara, and Tatsuro IzumiPublished online 15 August 2013

2604 5q31.3 Microdeletion Syndrome: Clinical and Molecular Characterization of Two Further Cases

Natasha Brown, Trent Burgess, Robin Forbes, George McGillivray, Andrew Kornberg, Simone Mandelstam,and Zornitza StarkPublished online 15 August 2013

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2609 Bone Marrow Transplantation in Schimke Immuno-Osseous Dysplasia

Alireza Baradaran-Heravi, Jonas Lange, Yumi Asakura, Pierre Cochat, Laura Massella, and Cornelius F. BoerkoelPublished online 15 August 2013

2614 Prenatal Presentation and Postnatal Evolution of a Patient With Jansen Metaphyseal

Dysplasia With a Novel Missense Mutation in PTH1R

Gianfranco Savoldi, Claudia Izzi, Marino Signorelli, Maria Pia Bondioni, Chiara Romani, Gaetana Lanzi, Daniele Moratto, Lucio Verdoni, Moira Pinotti, Federico Prefumo, Andrea Superti-Furga, and Alba PilottaPublished online 15 August 2013

2620 Maternal FMR1 Premutation Allele Expansion and Contraction in Fraternal Twins

Maria P. Alfaro, Melinda Cohen, and Cindy L. Vnencak-JonesPublished online 15 August 2013

2626 Boston Type Craniosynostosis: Report of a Second Mutation in MSX2

Joyce M.G. Florisson, Annemieke J.M.H. Verkerk, Daphne Huigh, A. Jeannette M. Hoogeboom,Sigrid Swagemakers, Andreas Kremer, Daphne Heijsman, Maarten H. Lequin, Irene M.J. Mathijssen, and Peter J. van der SpekPublished online 15 August 2013

2634 A 3p Interstitial Deletion in Two Monozygotic Twin Brothers and an 18-Year-Old Man: Further

Characterization and Review

Eva Maria Christina Schwaibold, Barbara Zoll, Peter Burfeind, Elke Hobbiebrunken, Bernd Wilken, Rudolf Funke, and Moneef ShoukierPublished online 15 August 2013

2641 Achondroplasia With Multiple-Suture Craniosynostosis: A Report of a New Case of This Rare

Association

Beáta Bessenyei, Andrea Nagy, Erzsébet Balogh, László Novák, László Bognár, Alida C. Knegt,and Éva OláhPublished online 15 August 2013

2645 A New Form of Severe Spondyloepimetaphyseal Dysplasia: Clinical and Radiological

Characterization

Bertrand Isidor, Loïc Geffroy, Benoît de Courtivron, Cédric Le Caignec, Christian T. Thiel, Geert Mortier, Valérie Cormier-Daire, Albert David, and Annick ToutainPublished online 16 August 2013

2652 Silver–Russell Syndrome Due to Paternal H19/IGF2 Hypomethylation in a Twin Girl Born After

In Vitro Fertilization

Guido Cocchi, Concetta Marsico, Anita Cosentino, Chiara Spadoni, Alessandro Rocca, Agostina De Crescenzo, and Andrea RiccioPublished online 16 August 2013

2656 Bilaterally Cleft Lip and Bilateral Thumb Polydactyly With Triphalangeal Component in a

Patient With Two De Novo Deletions of HSA 4q32 and 4q34 Involving PDGFC, GRIA2, and

FBXO8 Genes

Alessandro Calcia, Giorgia Gai, Eleonora Di Gregorio, Flavia Talarico, Valeria G. Naretto, Nicola Migone, Ernesto Pepe, Enrico Grosso, and Alfredo BruscoPublished online 16 August 2013

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RESEARCH LETTERS

2663 COL2A1 Gene Disruption by a Balanced Translocation t(12;15)(q13;q22.2) in Familial

Stickler Syndrome

Céline Dupont, Clarisse Baumann, Nathalie Le Du, Elise Schaefer, Fabien Guimiot, Lucile Boutaud, Yline Capri, Emmanuel Spaggiari, Azzedine Aboura, Brigitte Benzacken, and Anne-Claude TabetPublished online 5 August 2013

2666 Severe Pallister–Hall Syndrome With Persistent Urogenital Sinus, Renal Agenesis,

Imperforate Anus, Bilateral Hypothalamic Hamartomas, and Severe Skeletal Anomalies

Elizabeth McPherson and Christopher ColdPublished online 15 August 2013

2670 An Unexpected Aortic Valve in Trisomy 21

Cem Karadeniz, Rahmi Ozdemir, Yılmaz Yozgat, and Timur MesePublished online 15 August 2013

2672 Exon Skipping and Severe Childhood-Onset Obesity Caused by a Leptin Receptor Mutation

Naseebullah Kakar, Jamil Ahmad, Christian Kubisch, and Guntram BorckPublished online 15 August 2013

2675 The “Old Theme” of Variability Versus Transitory Phenotypes in Thanatophoric Dysplasia

Type 1: Two 19-Week-Old Fetuses With (“San Diego” Variant) and Without Ragged Metaphyses

Due to the Same FGFR3 Mutation

Marco Castori, Silvia Morlino, Francesca Clementina Radio, Carmelilia De Bernardo, and Paola GrammaticoPublished online 16 August 2013

2678 Book Review

J.M. OpitzPublished online 5 August 2013

CORRESPONDENCE

2681 Collagenopathy With a Phenotype Resembling Silver–Russell Syndrome Phenotype

Paola Cianci, Giuseppe Paterlini, Paolo Tagliabue, Maria Verderio, Patrizia Vergani, Maria Luisa Bianchi, Carlo Giussani, Gaia Kullmann, Fabio Mazzoleni, Alberto Bozzetti, and Angelo SelicorniPublished online 5 August 2013

ERRATUM

2685 “Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six

patients with Hajdu-Cheney syndrome and a patient with serpentine fi bula polycystic kidney

syndrome” Am J Med Genet. 161:518–526, 2013

Yoko Narumi, Byung-Joo Min, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon-Sok Chung, Ok-Hwa Kim, Yoshimitsu Fukushima, Woong-Yang Park, and Gen Nishimura

COVER FIGUREThe expected number of FISH signals per chromosome is dependent on the stage of meiotic prophase. See article by Rowsey et al. in this issue.

Selected thumbnails of key fi gures of articles in this issue are placed along the margins of the table of contents.

Volume 161A, Number 10 was mailed the week of September 20, 2013.

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