• Issue

    American Journal of Medical Genetics Part A: Volume 170, Issue 8

    i, 1949-2225
    August 2016
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Cover Image

Full Access

Cover Image, Volume 170A, Number 8, August 2016

Nadia Akawi,  Salma Ben-Salem,  Laura Lahti,  Juha Partanen,  Bassam R. Ali,  Lihadh Al-Gazali, 
  • Page: i
  • First Published: 13 July 2016
Cover Image, Volume 170A, Number 8, August 2016

The cover image, by Lihadh Al Gazali et al., is based on the Original Article A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene, DOI:10.1002/ajmg.a.37741.

Issue Information

Full Access

Table of Contents, Volume 170A, Number 8, August 2016

  • Pages: 1949-1952
  • First Published: 13 July 2016
Full Access

Publication schedule for 2016

  • Page: 1953
  • First Published: 13 July 2016

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

Full Access

Facial malformation atlas aims to aid diagnosis of genetic disorders in patients of non-European descent: National Human Genome Research Institute launches online database of facial phenotypes targeting diverse populations

  • Pages: 1954-1955
  • First Published: 13 July 2016
Full Access

Gene therapy for severe combined immune deficiency poised for European approval: If green-lighted, Strimvelis would provide additional treatment option for second most common form of disease

  • Pages: 1955-1956
  • First Published: 13 July 2016
Full Access

In this issue

  • Page: 1957
  • First Published: 13 July 2016

Conference Report

Full Access

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

David A. Stevenson,  Lisa Schill,  Lisa Schoyer,  Brage S. Andresen,  Annette Bakker,  Pinar Bayrak-Toydemir,  Emma Burkitt-Wright,  Kathryn Chatfield,  Florent Elefteriou,  Ype Elgersma,  Michael J. Fisher,  David Franz,  Bruce D. Gelb,  Anne Goriely,  Karen W. Gripp,  Antonio Y. Hardan,  Kim M. Keppler-Noreuil,  Bronwyn Kerr,  Bruce Korf,  Chiara Leoni,  Frank McCormick,  Scott R. Plotkin,  Katherine A. Rauen,  Karlyne Reilly,  Amy Roberts,  Abby Sandler,  Dawn Siegel,  Karin Walsh,  Brigitte C. Widemann, 
  • Pages: 1959-1966
  • First Published: 07 May 2016

Original Articles

Full Access

SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases

Yuri A. Zarate,  Elizabeth Bhoj,  Julie Kaylor,  Dong Li,  Yoshinori Tsurusaki,  Noriko Miyake,  Naomichi Matsumoto,  Shubha Phadke,  Luis Escobar,  Afifa Irani,  Hakon Hakonarson,  Samantha A. Schrier Vergano, 
  • Pages: 1967-1973
  • First Published: 05 June 2016
Full Access

Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience

Elizabeth I. Pierpont,  Melinda Wolford, 
  • Pages: 1974-1988
  • First Published: 05 May 2016
Full Access

Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview

Beatrice De Maria,  Laura Mazzanti,  Nathalie Roche,  Raoul C. Hennekam, 
  • Pages: 1989-2001
  • First Published: 19 May 2016

Rapid Communication

Full Access

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy

Jill A. Fahrner,  Raymond Liu,  Michael Scott Perry,  Jessica Klein,  David C. Chan, 
  • Pages: 2002-2011
  • First Published: 04 May 2016

Original Articles

Full Access

Quality of life in adolescents and adults with CHARGE syndrome

Nancy Hartshorne,  Alexandra Hudson,  Jillian MacCuspie,  Benjamin Kennert,  Tasha Nacarato,  Timothy Hartshorne,  Kim Blake, 
  • Pages: 2012-2021
  • First Published: 08 June 2016
Full Access

Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome

Annemarie Vesseur,  Margreet Langereis,  Rolien Free,  Ad Snik,  Conny van Ravenswaaij-Arts,  Emmanuel Mylanus, 
  • Pages: 2022-2030
  • First Published: 04 May 2016
Full Access

Further delineation of FKBP14-related Ehlers–Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review

Chiara Dordoni,  Claudia Ciaccio,  Marina Venturini,  Piergiacomo Calzavara-Pinton,  Marco Ritelli,  Marina Colombi, 
  • Pages: 2031-2038
  • First Published: 05 May 2016
Full Access

Achondroplasia: Really rhizomelic?

Susan Cheng Shelmerdine,  Helen Brittain,  Owen J. Arthurs,  Alistair D. Calder, 
  • Pages: 2039-2043
  • First Published: 03 June 2016
Full Access

Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers–Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome

Claire Bovet,  Matthew Carlson,  Matthew Taylor, 
  • Pages: 2044-2051
  • First Published: 08 June 2016
Full Access

“I'm Healthy, It's Not Going To Be Me”: Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia

Catherine A. Beard,  David J. Amor,  Louisa Di Pietro,  Alison D. Archibald, 
  • Pages: 2052-2059
  • First Published: 06 May 2016
Full Access

Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patients

Stephanie M. Cologna,  Christine Shieh,  Cynthia L. Toth,  Antony Cougnoux,  Kathryn R. Burkert,  Simona E. Bianconi,  Christopher A. Wassif,  Forbes D. Porter, 
  • Pages: 2060-2068
  • First Published: 05 May 2016
Full Access

Physical measurements of Chinese children in Hong Kong—A pilot study in preschools and kindergartens

Gary T. K. Mok,  Sharon S. Chan,  Yoyo W. Y. Chu,  Sau Man Chan,  Wilfred H. S. Wong,  Brian H. Y. Chung, 
  • Pages: 2069-2077
  • First Published: 31 May 2016
Full Access

Gastroschisis and maternal intake of phytoestrogens

Elizabeth L. Wadhwa,  Chen Ma,  Gary M. Shaw,  Suzan L. Carmichael,  and the National Birth Defects Prevention Study , 
  • Pages: 2078-2082
  • First Published: 27 May 2016
Full Access

Adolescents’ preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood

Sophia B. Hufnagel,  Lisa J. Martin,  Amy Cassedy,  Robert J. Hopkin,  Armand H. Matheny Antommaria, 
  • Pages: 2083-2088
  • First Published: 05 May 2016
Full Access

A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech

Igor N. Lebedev,  Lyudmila P. Nazarenko,  Nikolay A. Skryabin,  Nadezhda P. Babushkina,  Anna A. Kashevarova, 
  • Pages: 2089-2096
  • First Published: 10 June 2016
Full Access

Higher plasma orexin A levels in children with Prader–Willi syndrome compared with healthy unrelated sibling controls

Ann M. Manzardo,  Lisa Johnson,  Jennifer L. Miller,  Daniel J. Driscoll,  Merlin G. Butler, 
  • Pages: 2097-2102
  • First Published: 23 May 2016
Full Access

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

Alice Masurel-Paulet,  Amélie Piton,  Sophie Chancenotte,  Claire Redin,  Christel Thauvin-Robinet,  Yvan Henrenger,  Delphine Minot,  Audrey Creppy,  Marie Ruffier-Bourdet,  Julien Thevenon,  Paul Kuentz,  Daphné Lehalle,  Aurore Curie,  Gaelle Blanchard,  Ezzat Ghosn,  Marlene Bonnet,  Mélanie Archimbaud-Devilliers,  Frédéric Huet,  Odile Perret,  Nicole Philip,  Jean-Louis Mandel,  Laurence Faivre, 
  • Pages: 2103-2110
  • First Published: 03 June 2016
Full Access

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene

Nadia Akawi,  Salma Ben-Salem,  Laura Lahti,  Juha Partanen,  Bassam R. Ali,  Lihadh Al-Gazali, 
  • Pages: 2111-2118
  • First Published: 17 May 2016
Full Access

Is the diagnostic yield influenced by the indication for fetal autopsy?

Ratna Dua Puri,  Udhaya Kotecha,  Meena Lall,  Pratima Dash,  Sunita Bijarnia-Mahay,  Ishwar Chander Verma, 
  • Pages: 2119-2126
  • First Published: 20 May 2016
Full Access

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation

Pratibha Nair,  Abdul Rezzak Hamzeh,  Madiha Mohamed,  Fatima Saif,  Nafisa Tawfiq,  Majdi El Halik,  Mahmoud Taleb Al-Ali,  Fatma Bastaki, 
  • Pages: 2127-2132
  • First Published: 27 May 2016
Full Access

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations

Mohamed S. Abdel-Hamid,  Manal F. Ismail,  Hebatallh A. Darwish,  Laila K. Effat,  Maha S. Zaki,  Ghada M. H. Abdel-Salam, 
  • Pages: 2133-2140
  • First Published: 02 June 2016

Research Review

Full Access

Etiologies of uterine malformations

Adeline Jacquinet,  Debra Millar,  Anna Lehman, 
  • Pages: 2141-2172
  • First Published: 08 June 2016

Clinical Reports

Full Access

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Karit Reinson,  Eve Õiglane-Shlik,  Inga Talvik,  Ulvi Vaher,  Anne Õunapuu,  Margus Ennok,  Rita Teek,  Sander Pajusalu,  Ülle Murumets,  Tiiu Tomberg,  Sanna Puusepp,  Andres Piirsoo,  Tiia Reimand,  Katrin Õunap, 
  • Pages: 2173-2176
  • First Published: 02 June 2016
Full Access

Pregnancy after aortic root replacement in Loeys–Dietz syndrome: High risk of aortic dissection

Alan C. Braverman,  Marc R. Moon,  Patrick Geraghty,  Marcia Willing,  Christopher Bach,  Nicholas T. Kouchoukos, 
  • Pages: 2177-2180
  • First Published: 29 April 2016
Full Access

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

Weimin Bi,  Ian A. Glass,  Donna M. Muzny,  Richard A. Gibbs,  Christine M. Eng,  Yaping Yang,  Angela Sun, 
  • Pages: 2181-2185
  • First Published: 12 May 2016
Full Access

Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation

Angela M. Kelle,  S. Jared Bentley,  Luis O. Rohena,  Allison K. Cabalka,  Timothy M. Olson, 
  • Pages: 2186-2190
  • First Published: 13 May 2016
Full Access

Temporomandibular joint ankylosis as part of the clinical spectrum of Carey–Fineman–Ziter syndrome?

Martina Pasetti,  Fabio Mazzoleni,  Giorgio Novelli,  Maria Iascone,  Alberto Bozzetti,  Angelo Selicorni, 
  • Pages: 2191-2195
  • First Published: 27 May 2016
Full Access

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing

Enza Mozzillo,  Carla Cozzolino,  Rita Genesio,  Daniela Melis,  Giulia Frisso,  Ada Orrico,  Barbara Lombardo,  Valentina Fattorusso,  Valentina Discepolo,  Roberto Della Casa,  Francesca Simonelli,  Lucio Nitsch,  Francesco Salvatore,  Adriana Franzese, 
  • Pages: 2196-2199
  • First Published: 03 June 2016
Full Access

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype

Jin Sook Lee,  Yongjin Yoo,  Byung Chan Lim,  Ki Joong Kim,  Junghan Song,  Murim Choi,  Jong-Hee Chae, 
  • Pages: 2200-2205
  • First Published: 27 May 2016
Full Access

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Magalie S. Leduc,  Zhiyv Niu,  Weimin Bi,  Wenmiao Zhu,  Irene Miloslavskaya,  Theodore Chiang,  Haley Streff,  John R. Seavitt,  Stephen A. Murray,  Christine Eng,  Audrey Chan,  Yaping Yang,  Seema R. Lalani, 
  • Pages: 2206-2211
  • First Published: 02 June 2016

Research Letters

Full Access

Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation

Gen Nishimura,  Masahiro Nakajima,  Kazuharu Takikawa,  Nobuhiko Haga,  Shiro Ikegawa, 
  • Pages: 2212-2214
  • First Published: 05 June 2016
Full Access

First clinical report of an infant with microcephaly and CASC5 mutations

Yuri A. Zarate,  Julie A. Kaylor,  Katherine Bosanko,  Sarah Lau,  Jose Vargas,  Hanlin Gao, 
  • Pages: 2215-2218
  • First Published: 05 May 2016
Full Access

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy

Mohammed Zain Seidahmed,  Mustafa A. Salih,  Omer Bashir Abdelbasit,  Ali H. Alassiri,  Khalid Al Hussein,  Abeer Miqdad,  Abdelmohsin Samadi,  Abdallah Al Rasheed,  Ibrahim A. Alorainy,  Ranad Shaheen,  Fowzan S. Alkuraya, 
  • Pages: 2219-2221
  • First Published: 30 May 2016
Full Access

Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis

Rathi Prasad,  Carole Brewer,  Christine P. Burren, 
  • Pages: 2222-2225
  • First Published: 12 May 2016