• Issue

    American Journal of Medical Genetics Part A: Volume 170, Issue 7

    i, 1655-1947
    July 2016
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Cover Image, Volume 170A, Number 7, July 2016

Elisa Giorgio,  Andrea Ciolfi,  Elisa Biamino,  Viviana Caputo,  Eleonora Di Gregorio,  Elga Fabia Belligni,  Alessandro Calcia,  Elena Gaidolfi,  Alessandro Bruselles,  Cecilia Mancini,  Simona Cavalieri,  Cristina Molinatto,  Margherita Cirillo Silengo,  Giovanni Battista Ferrero,  Marco Tartaglia,  Alfredo Brusco, 
  • Page: i
  • First Published: 17 June 2016
Cover Image, Volume 170A, Number 7, July 2016

The cover image, by Alfredo Brusco et al., is based on the Original Article Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain signifi cance: Two proof-of-concept examples, DOI: 10.1002/ajmg.a.37649.

Issue Information

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Table of Contents, Volume 170A, Number 7, July 2016

  • Pages: 1655-1658
  • First Published: 17 June 2016
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Publication schedule for 2016

  • Page: 1659
  • First Published: 17 June 2016

the AJMG SEQUENCE: Decoding News and Trends for the Medical Genetics Community by Deborah Levenson

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Autism variants can influence behavior, communication traits in general population: Study suggests that trait variation can lend insight into etiology of neurodevelopmental, psychiatric disorders

  • Pages: 1660-1661
  • First Published: 17 June 2016
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Online platform to embrace wide community of people affected by genetic diseases: RUNmyDNA.com designed to break down communication silos among parents, advocacy groups, geneticists, and insurers

  • Pages: 1661-1662
  • First Published: 17 June 2016
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In this issue

  • Page: 1663
  • First Published: 17 June 2016

Conference Report

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36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

Karen W. Gripp,  Margaret P. Adam,  Louanne Hudgins,  John C. Carey, 
  • Pages: 1665-1726
  • First Published: 27 April 2016

In Memoriam

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In memory of Murray Feingold (1930–2015)

G. Bradley Schaefer,  Catherine Bearce Nowak,  Ann Haskins Olney, 
  • Pages: 1727-1731
  • First Published: 05 May 2016

Conference Report

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The society for craniofacial genetics and developmental biology 38th annual meeting

Lisa A. Taneyhill,  Julie Hoover-Fong,  Scott Lozanoff,  Ralph Marcucio,  Joan T. Richtsmeier,  Paul A. Trainor, 
  • Pages: 1732-1753
  • First Published: 22 April 2016

Research Articles

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The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes

Karen W. Gripp,  Laura Baker,  Aida Telegrafi,  Kristin G. Monaghan, 
  • Pages: 1754-1762
  • First Published: 26 April 2016
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Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements

Katherine Abell,  Warren May,  Philip A. May,  Wendy Kalberg,  H. Eugene Hoyme,  Luther K. Robinson,  Melanie Manning,  Kenneth Lyons Jones,  Omar Abdul-Rahman, 
  • Pages: 1763-1771
  • First Published: 02 June 2016
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Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

Elisa Giorgio,  Andrea Ciolfi,  Elisa Biamino,  Viviana Caputo,  Eleonora Di Gregorio,  Elga Fabia Belligni,  Alessandro Calcia,  Elena Gaidolfi,  Alessandro Bruselles,  Cecilia Mancini,  Simona Cavalieri,  Cristina Molinatto,  Margherita Cirillo Silengo,  Giovanni Battista Ferrero,  Marco Tartaglia,  Alfredo Brusco, 
  • Pages: 1772-1779
  • First Published: 25 April 2016
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Three cases of Troyer syndrome in two families of Filipino descent

Shauna Butler,  Katherine L. Helbig,  Wendy Alcaraz,  Laurie H. Seaver,  David T. Hsieh,  Luis Rohena, 
  • Pages: 1780-1785
  • First Published: 26 April 2016
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Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome

Allyson E. Somers,  Robert B. Hinton,  Valentina Pilipenko,  Erin Miller,  Stephanie M. Ware, 
  • Pages: 1786-1790
  • First Published: 26 April 2016
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Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

Francisca Millan,  Megan T. Cho,  Kyle Retterer,  Kristin G. Monaghan,  Renkui Bai,  Patrik Vitazka,  David B. Everman,  Brooke Smith,  Brad Angle,  Victoria Roberts,  LaDonna Immken,  Honey Nagakura,  Marc DiFazio,  Elliott Sherr,  Eden Haverfield,  Bethany Friedman,  Aida Telegrafi,  Jane Juusola,  Wendy K. Chung,  Sherri Bale, 
  • Pages: 1791-1798
  • First Published: 02 May 2016
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Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

Emmanuel Scalais,  Anne-Catherine Connerotte,  Karine Despontin,  Armand Biver,  Chantal Ceuterick-de Groote,  Marielle Alders,  Athanassios Kolivras,  Jean-Pierre Hachem,  Linda De Meirleir, 
  • Pages: 1799-1805
  • First Published: 29 April 2016
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Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature

Béatrice Laudier,  Tiphanie Epiais,  Arnaud Pâris,  Arnaud Menuet,  Sylvain Briault,  Canan Ozsancak,  Olivier Perche, 
  • Pages: 1806-1812
  • First Published: 26 April 2016
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Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis

Markus Vogel,  Eunike Velleuer,  Leon F. Schmidt-Jiménez,  Ertan Mayatepek,  Arndt Borkhardt,  Malik Alawi,  Kerstin Kutsche,  Fanny Kortüm, 
  • Pages: 1813-1819
  • First Published: 04 May 2016
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Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

Christine M. Armour,  Amanda Smith,  Taila Hartley,  Jodi Warman Chardon,  Sarah Sawyer,  Jeremy Schwartzentruber,  Raoul Hennekam,  Jacek Majewski,  Dennis E. Bulman,  FORGE Canada Consortium ,  Mohnish Suri,  Kym M. Boycott, 
  • Pages: 1820-1825
  • First Published: 02 May 2016
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Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family

Ahmed Al-Amri,  Abeer Al Saegh,  Watfa Al-Mamari,  Mohammed E. El-Asrag,  Jose L. Ivorra,  Alastair G. Cardno,  Chris F. Inglehearn,  Steven J. Clapcote,  Manir Ali, 
  • Pages: 1826-1831
  • First Published: 05 May 2016
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Elastins from patients with Williams–Beuren syndrome and healthy individuals differ on the molecular level

Andrea Heinz,  Angela C. Mora Huertas,  Christoph U. Schräder,  Rainer Pankau,  Angela Gosch,  Christian E. H. Schmelzer, 
  • Pages: 1832-1842
  • First Published: 17 June 2016
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Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease

Marie Trkova,  Martin Hynek,  Lubica Dudakova,  Vera Becvarova,  Martin Hlozanek,  Dagmar Raskova,  Andrea L. Vincent,  Petra Liskova, 
  • Pages: 1843-1848
  • First Published: 03 June 2016
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Respiratory system involvement in Costello syndrome

Natalia Gomez-Ospina,  Christin Kuo,  Amitha Lakshmi Ananth,  Angela Myers,  Marie-Luise Brennan,  David A. Stevenson,  Jonathan A. Bernstein,  Louanne Hudgins, 
  • Pages: 1849-1857
  • First Published: 22 April 2016

Clinical Reports

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COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse

Yuri A. Zarate,  Rachel Clingenpeel,  Elizabeth A. Sellars,  Xinyu Tang,  Julie A. Kaylor,  Katherine Bosanko,  Leann E. Linam,  Peter H. Byers, 
  • Pages: 1858-1862
  • First Published: 19 April 2016
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Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome

Ikumi Hori,  Fuyuki Miya,  Kei Ohashi,  Yutaka Negishi,  Ayako Hattori,  Naoki Ando,  Nobuhiko Okamoto,  Mitsuhiro Kato,  Tatsuhiko Tsunoda,  Mami Yamasaki,  Yonehiro Kanemura,  Kenjiro Kosaki,  Shinji Saitoh, 
  • Pages: 1863-1867
  • First Published: 13 April 2016
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A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

Shagun Aggarwal,  Aneek Das Bhowmik,  Vedam L. Ramprasad,  Sakthivel Murugan,  Ashwin Dalal, 
  • Pages: 1868-1873
  • First Published: 25 April 2016
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Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature

Doris Milosavljević,  Eline Overwater,  Saskia Tamminga,  Karin de Boer,  Mariet W. Elting,  Marion E. van Hoorn,  Tuula Rinne,  Arjan C. Houweling, 
  • Pages: 1874-1880
  • First Published: 25 April 2016
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A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy

Omri David Soffer,  Richard Sidlow, 
  • Pages: 1881-1883
  • First Published: 19 April 2016
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14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype

Mattia Gentile,  Delia De Mattia,  Angela Pansini,  Federico Schettini,  Antonia Lucia Buonadonna,  Manuela Capozza,  Romina Ficarella,  Nicola Laforgia, 
  • Pages: 1884-1888
  • First Published: 05 May 2016
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Is 1p36 deletion associated with anterior body wall defects?

Medis Çöllü,  Şirin Yüksel,  Başak Kumbasar Şirin,  Latif Abbasoğlu,  Yasemin Alanay, 
  • Pages: 1889-1894
  • First Published: 04 May 2016
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Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia

Nicolas Chassaing,  Nicola Ragge,  Julie Plaisancié,  Oliver Patat,  David Geneviève,  François Rivier,  Claudie Malrieu-Eliaou,  Christian Hamel,  Josseline Kaplan,  Patrick Calvas, 
  • Pages: 1895-1898
  • First Published: 22 April 2016
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Rapid clinical deterioration in an individual with Down syndrome

Julia Jacobs,  Alison Schwartz,  Christopher J. McDougle,  Brian G. Skotko, 
  • Pages: 1899-1902
  • First Published: 05 May 2016
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Macrodactyly in tuberous sclerosis complex: Case report and review of the literature

Mariana Soeiro e Sá,  Oana Moldovan,  Ana Berta Sousa, 
  • Pages: 1903-1907
  • First Published: 26 April 2016
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A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome

Luis F. Escobar,  Megan Tucker,  Michael Bamshad, 
  • Pages: 1908-1911
  • First Published: 03 May 2016
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A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders

Fatma Abdelhedi,  Laila El Khattabi,  Nouha Essid,  Geraldine Viot,  Dominique Letessier,  Aziza Lebbar,  Jean-Michel Dupont, 
  • Pages: 1912-1917
  • First Published: 27 April 2016
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An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

Paul Dimitri,  Elisa De Franco,  Abdelhadi M. Habeb,  Fatih Gurbuz,  Khairya Moussa,  Doris Taha,  Jerry K. H. Wales,  Jacob Hogue,  Anne Slavotinek,  Ambika Shetty,  Meena Balasubramanian, 
  • Pages: 1918-1923
  • First Published: 05 May 2016
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Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation

Tsukasa Ishiwata,  Nobuhiro Tanabe,  Ayako Shigeta,  Hajime Yokota,  Kenji Tsushima,  Jiro Terada,  Seiichiro Sakao,  Hiroko Morisaki,  Takayuki Morisaki,  Koichiro Tatsumi, 
  • Pages: 1924-1927
  • First Published: 15 April 2016

Research Letters

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Death from supine asphyxia in late onset pompe disease: Two patients

Sujay Kansagra,  Stephanie Austin,  Stephanie DeArmey,  Dwight Koeberl,  Priya S. Kishnani, 
  • Pages: 1928-1929
  • First Published: 04 May 2016
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A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

Mathew J. Wallis,  Amanda L. Kelly,  Gregory B. Peters,  Luke St Heaps,  Adayapalam Nandini,  Julie M. McGaughran, 
  • Pages: 1930-1933
  • First Published: 09 May 2016
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Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

Oscar F. Chacón-Camacho,  Nara Sobreira,  Jing You,  Raul E. Piña-Aguilar,  Vanessa Villegas-Ruiz,  Juan C. Zenteno, 
  • Pages: 1934-1937
  • First Published: 03 May 2016
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Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

Ho-Ming Luk,  Fai-Man Ivan Lo,  Shinichiro Sano,  Keiko Matsubara,  Akie Nakamura,  Tsutomu Ogata,  Masayo Kagami, 
  • Pages: 1938-1941
  • First Published: 06 May 2016
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Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings

Ho Ming Luk,  Tao Tang,  Kwong Wai Richard Choy,  Ming For Tony Tong,  On Kit Wong,  Fai Man Ivan Lo, 
  • Pages: 1942-1944
  • First Published: 25 April 2016
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Trisomy 13 and gallbladder agenesis

Rafael F. M. Rosa,  Elisa P. E. Correia,  Victória B. Guimarães,  Júlia S. Trombetta,  Luciana A. Beltrão,  Karen L. P. Lliguin,  Vinicius Freitas de Mattos,  Rosana C. M. Rosa,  Paulo R. G. Zen, 
  • Pages: 1945-1946
  • First Published: 07 May 2016

Corrigendum

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Ehlers–Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

Marco Castori, 
  • Page: 1947
  • First Published: 05 May 2016