• Issue

    American Journal of Medical Genetics Part A: Volume 176, Issue 1

    i, 1-256
    January 2018
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COVER IMAGE

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Cover Image, Volume 176A, Number 1, January 2018

Satoru Ikenoue,  Kei Miyakoshi,  Tomohiro Ishii,  Yu Sato,  Toshimitsu Otani,  Yohei Akiba,  Yoshifumi Kasuga,  Daigo Ochiai,  Tadashi Matsumoto,  Yosuke Ichihashi,  Yohei Matsuzaki,  Kanako Tachikawa,  Toshimi Michigami,  Gen Nishimura,  Kazushige Ikeda,  Tomonobu Hasegawa,  Mamoru Tanaka, 
  • Page: i
  • First Published: 12 December 2017
Cover Image, Volume 176A, Number 1, January 2018

The cover image, by Satoru Ikenoue et al., is based on the Clinical Report Discordant fetal phenotype of hypophosphatasia in two siblings, DOI: 10.1002/ajmg.a.38531.

ISSUE INFORMATION

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Table of Contents, Volume 176A, Number 1, January 2018

  • Pages: 1-5
  • First Published: 12 December 2017
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Publication schedule for 2017

  • Page: 6
  • First Published: 12 December 2017

THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY DEBORAH LEVENSON

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Testing scenario for intellectual disability, developmental delay, and autism challenged

  • Pages: 7-8
  • First Published: 12 December 2017
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Exome sequencing helps diagnose infants in the ICU: Test results changed medical management for more than half of diagnosed babies

  • Pages: 8-9
  • First Published: 12 December 2017
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In this issue

  • Pages: 9-10
  • First Published: 12 December 2017

ORIGINAL ARTICLES

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Rare FMR1 gene mutations causing fragile X syndrome: A review

Adam F. Sitzmann,  Robert T. Hagelstrom,  Flora Tassone,  Randi J. Hagerman,  Merlin G. Butler, 
  • Pages: 11-18
  • First Published: 27 November 2017
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Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012

Tanya Bedard,  R. Brian Lowry,  Barbara Sibbald,  Susan Crawford,  Gerhard N. Kiefer, 
  • Pages: 19-28
  • First Published: 23 November 2017

RAPID COMMUNICATION

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Parental education accounts for variability in the IQs of probands with Down syndrome: A longitudinal study

David W. Evans PhD,  Mirko Uljarević PhD, MD, 
  • Pages: 29-33
  • First Published: 21 November 2017

ORIGINAL ARTICLES

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Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly

Anjana Kar,  Shubha R. Phadke,  Aneek Das Bhowmik,  Ashwin Dalal, 
  • Pages: 34-40
  • First Published: 21 November 2017
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A model to characterize psychopathological features in adults with Prader-Willi syndrome

Denise Thuilleaux,  Virginie Laurier,  Pierre Copet,  Julie Tricot,  Geneviève Demeer,  Fabien Mourre,  Maithé Tauber,  Joseba Jauregi, 
  • Pages: 41-47
  • First Published: 17 November 2017
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Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome

Jack E. Steiner,  Garrett N. McCoy,  Christopher P. Hess,  William B. Dobyns,  Denise W. Metry,  Beth A. Drolet,  Mohit Maheshwari,  Dawn H. Siegel, 
  • Pages: 48-55
  • First Published: 24 November 2017
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Expanding the neurodevelopmental phenotype of PURA syndrome

Bo Hoon Lee,  Margot R. F. Reijnders,  Oluwatobi Abubakare,  Emily Tuttle,  Brynn Lape,  Kelly Q. Minks,  Christopher Stodgell,  Loisa Bennetto,  Jennifer Kwon,  Chin-To Fong,  Karen W. Gripp,  Eric D. Marsh,  Wendy E. Smith,  Ahm M. Huq,  Stephanie A. Coury,  Wen-Hann Tan,  Orestes Solis,  Rupal I. Mehta,  Richard J. Leventer,  Diana Baralle,  David Hunt,  Alex R. Paciorkowski, 
  • Pages: 56-67
  • First Published: 17 November 2017
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Auditory evoked potentials in children and adolescents with Down syndrome

Letícia Gregory,  Rafael F. M. Rosa,  Paulo R. G. Zen,  Pricila Sleifer, 
  • Pages: 68-74
  • First Published: 06 December 2017
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Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins

Tara Wenger,  Dong Li,  Margaret H. Harr,  Wen-Hann Tan,  Renata Pellegrino,  Zornitza Stark,  Hakon Hakonarson,  Elizabeth J. Bhoj, 
  • Pages: 75-81
  • First Published: 12 November 2017
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Family management of childhood chronic conditions: Does it make a difference if the child has an intellectual disability?

Marcia Van Riper PhD, RN, FAAN,  George J. Knafl PhD,  Cecelia Roscigno RN, PhD,  Kathleen A. Knafl PhD, FAAN, 
  • Pages: 82-91
  • First Published: 15 November 2017
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A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness

Vincent J. Guen,  Simon Edvardson,  Nitay D. Fraenkel,  Aviva Fattal-Valevski,  Chaim Jalas,  Irene Anteby,  Avraham Shaag,  Talia Dor,  David Gillis,  Eitan Kerem,  Jacqueline A. Lees,  Pierre Colas,  Orly Elpeleg, 
  • Pages: 92-98
  • First Published: 12 November 2017
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Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss

Jing Guan,  Hongyang Wang,  Lan Lan,  Li Wang,  Ju Yang,  Linyi Xie,  Zifang Yin,  Wenping Xiong,  Lidong Zhao,  Dayong Wang,  Qiuju Wang, 
  • Pages: 99-106
  • First Published: 19 October 2017
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Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities

Bing Xiao,  Wenjuan Qiu,  Xing Ji,  Xiaoqing Liu,  Zhuo Huang,  Huili Liu,  Yanjie Fan,  Yan Xu,  Yu Liu,  Hui Yie,  Wei Wei,  Hui Yan,  Zhuwen Gong,  Lixiao Shen,  Yu Sun, 
  • Pages: 107-115
  • First Published: 21 November 2017

RESEARCH REVIEW

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Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines

George T. Capone,  Brian Chicoine,  Peter Bulova,  Mary Stephens,  Sarah Hart,  Blythe Crissman,  Andrea Videlefsky,  Katherine Myers,  Nancy Roizen,  Anna Esbensen,  Moya Peterson,  Stephanie Santoro,  Jason Woodward,  Barry Martin,  David Smith,  for the Down Syndrome Medical Interest Group DSMIG-USA Adult Health Care Workgroup , 
  • Pages: 116-133
  • First Published: 12 November 2017

RESEARCH LETTERS

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Novel STRA6 null mutations in the original family described with Matthew–Wood syndrome

Francesca Pasutto,  Frances Flinter,  Anita Rauch,  André Reis, 
  • Pages: 134-138
  • First Published: 23 November 2017
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FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism

Kaori Yamoto,  Shingo Okamoto,  Yasuko Fujisawa,  Maki Fukami,  Hirotomo Saitsu,  Tsutomu Ogata, 
  • Pages: 139-143
  • First Published: 21 November 2017
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Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype

Kent D. McKelvey Jr.,  Carol J. Trana,  Jill Kelsay,  Jeffrey Sawyer,  Jeffrey Clothier, 
  • Pages: 144-145
  • First Published: 06 December 2017

CLINICAL REPORTS

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Familial choreoathetosis due to novel heterozygous mutation in PDE10A

Dhanya L. Narayanan,  Dipti Deshpande,  Aneek Das Bhowmik,  Dandu R. Varma,  Ashwin Dalal, 
  • Pages: 146-150
  • First Published: 12 November 2017
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How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

Mathias Schwartz,  Damien Sternberg,  Sandra Whalen,  Alexandra Afenjar,  Arnaud Isapof,  Brigitte Chabrol,  Marie-France Portnoï,  Solveig Heide,  Boris Keren,  Sandra Chantot-Bastaraud,  Jean-Pierre Siffroi, 
  • Pages: 151-155
  • First Published: 12 November 2017
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p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome

Malavika Hebbar,  Anil Kanthi,  Aroor Shrikiran,  Snehal Patil,  Mamta Muranjan,  Febi Francis,  Vishnu Bhat B,  Katta M Girisha,  Anju Shukla, 
  • Pages: 156-160
  • First Published: 17 November 2017
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Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family

Ariadna González-del Angel,  Alan Caro-Contreras,  Miguel Angel Alcántara-Ortigoza,  Sandra Ramos,  Roberto Cruz-Alcívar,  Paola Moyers-Pérez, 
  • Pages: 161-166
  • First Published: 17 November 2017
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Wieacker–Wolff syndrome with associated cleft palate in a female case

Natalie D. Godfrey,  Samandar Dowlatshahi,  Madelena M. Martin,  Douglas M. Rothkopf, 
  • Pages: 167-170
  • First Published: 17 November 2017
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Discordant fetal phenotype of hypophosphatasia in two siblings

Satoru Ikenoue,  Kei Miyakoshi,  Tomohiro Ishii,  Yu Sato,  Toshimitsu Otani,  Yohei Akiba,  Yoshifumi Kasuga,  Daigo Ochiai,  Tadashi Matsumoto,  Yosuke Ichihashi,  Yohei Matsuzaki,  Kanako Tachikawa,  Toshimi Michigami,  Gen Nishimura,  Kazushige Ikeda,  Tomonobu Hasegawa,  Mamoru Tanaka, 
  • Pages: 171-174
  • First Published: 21 November 2017
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Temple syndrome as a differential diagnosis to Prader–Willi syndrome: Identifying three new patients

Asgeir Lande MD,  Mette Kroken MSc,  Kai Rabben MD,  Lars Retterstøl MD, PhD, 
  • Pages: 175-180
  • First Published: 21 November 2017
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MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence

Christopher T. Gordon,  Maya Chopra,  Myriam Oufadem,  Olivier Alibeu,  Marc Bras,  Nathalie Boddaert,  Christine Bole-Feysot,  Patrick Nitschké,  Véronique Abadie,  Stanislas Lyonnet,  Jeanne Amiel, 
  • Pages: 181-186
  • First Published: 21 November 2017
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Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

Rüstem Yilmaz,  Katalin Szakszon,  Anna Altmann,  Umut Altunoglu,  Leyli Senturk,  Marianne McGuire,  Olga Calabrese,  Suneeta Madan-Khetarpal,  Lina Basel-Vanagaite,  Guntram Borck, 
  • Pages: 187-193
  • First Published: 21 November 2017
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Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child

Brooke E. Harcourt,  Denise V. R. Bullen,  Kung-Ting Kao,  Daniella Tassoni,  Erin J. Alexander,  Trent Burgess,  Susan M. White,  Matthew A. Sabin, 
  • Pages: 194-200
  • First Published: 21 November 2017

Open Access

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems

Julie Soblet,  Ivan Dimov,  Clemens Graf von Kalckreuth,  Julie Cano-Chervel,  Simon Baijot,  Karin Pelc,  Martine Sottiaux,  Catheline Vilain,  Guillaume Smits,  Nicolas Deconinck, 
  • Pages: 201-208
  • First Published: 27 September 2017
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Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients

Deborah Osio,  Julia Rankin,  Hannele Koillinen,  Adele Reynolds,  Hilde Van Esch, 
  • Pages: 209-213
  • First Published: 12 November 2017
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A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)

Qi Zhou,  Fengxia Yao,  Feng Wang,  Hui Li,  Rui Chen,  Ruifang Sui, 
  • Pages: 214-218
  • First Published: 14 November 2017
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Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation

Aneek Das Bhowmik,  Vijayalakshmi Salem Ramakumaran,  Ashwin Dalal, 
  • Pages: 219-224
  • First Published: 21 November 2017
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Further delineation of the GDF6 related multiple synostoses syndrome

Paulien A. Terhal,  Nienke E. Verbeek,  Nine Knoers,  Rutger J. A. J. Nievelstein,  Ans van den Ouweland,  Ralph J. Sakkers,  Lucienne Speleman,  Gijs van Haaften, 
  • Pages: 225-229
  • First Published: 12 November 2017
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Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

Kenneth A. Myers,  Mark F. Bennett,  Chung W. Chow,  Susan M. Carden,  Simone A. Mandelstam,  Melanie Bahlo,  Ingrid E. Scheffer, 
  • Pages: 230-234
  • First Published: 21 November 2017
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Novel pregnancy-triggered episodes of CAPOS syndrome

Irene J. Chang MD,  Margaret P. Adam MD,  Suman Jayadev MD,  Thomas D. Bird MD,  Niranjana Natarajan MD,  Ian A. Glass MD, MB, ChB, 
  • Pages: 235-240
  • First Published: 01 November 2017

RAPID COMMUNICATION

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DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia

Aiko Iwata-Otsubo,  Alyssa L. Ritter,  Brooke Weckselbatt,  Nicole R. Ryan,  David Burgess,  Laura K. Conlin,  Kosuke Izumi, 
  • Pages: 241-245
  • First Published: 12 November 2017

CORRESPONDENCES

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Calvarial mass as a presenting feature of neurofibromatosis type 2 in a pediatric patient

Kalindi Y. Narine,  Christopher C. Oh,  Herbert E. Fuchs,  David Van Mater, 
  • Pages: 246-247
  • First Published: 12 November 2017
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Short rib syndrome Beemer–Langer type, a short history

Frits A. Beemer, 
  • Pages: 248-249
  • First Published: 12 November 2017
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In reply to “Mast Cell Disorders in Ehlers–Danlos Syndrome”

Jaime Vengoechea, 
  • Page: 250
  • First Published: 12 November 2017
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Response to: “In reply to: ‘Mast Cell Disorders in Ehlers–Danlos Syndrome’ (Jaime Vengoechea, Department of Human Genetics, Emory University)”

Suranjith L. Seneviratne MD,  Anne Maitland MD,  Lawrence B. Afrin MD, 
  • Pages: 251-252
  • First Published: 21 November 2017

CONFERENCE REPORT

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Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas

Philip F. Giampietro,  Olivier Pourquie,  Cathy Raggio,  Shiro Ikegawa,  Peter D. Turnpenny,  Ryan Gray,  Sally L. Dunwoodie,  Christina A. Gurnett,  Benjamin Alman,  Kenneth Cheung,  Kenro Kusumi,  Nancy Hadley-Miller,  Carol A. Wise, 
  • Pages: 253-256
  • First Published: 21 November 2017