Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein

Matthew F Pescosolido; Matthew Schwede; Ashley Johnson Harrison; Michael Schmidt; Ece D Gamsiz; Wendy S Chen; John P Donahue; Natasha Shur; Beth A Jerskey; Chanika Phornphutkul; Eric M Morrow

doi:10.1136/jmedgenet-2014-102444

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein

J Med Genet. 2014 Sep;51(9):587-9. doi: 10.1136/jmedgenet-2014-102444. Epub 2014 Jul 23.

Authors

Affiliations

¹ Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Lab for Molecular Medicine, Institute for Brain Science, Brown University, Providence, Rhode Island, USA Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
² Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA.
³ Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
⁴ Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
⁵ Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
⁶ Division of Ophthalmology, Department of Surgery, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
⁷ Department of Pediatrics, Division of Genetics, Children's Hospital at Albany Medical Center, Albany, New York, USA.
⁸ Department of Pediatrics, Division of Human Genetics, Rhode Island Hospital and Brown University, Providence, Rhode Island, USA.

No abstract available

Keywords: Clinical genetics; Genetics; Molecular genetics; Neurosciences; Visual development.

Publication types

Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Base Sequence
Child
Child Development Disorders, Pervasive / genetics*
Child Development Disorders, Pervasive / pathology
Female
Genetic Association Studies
Homeodomain Proteins / genetics*
Humans
Molecular Sequence Data
Mutation / genetics*
Nerve Tissue Proteins / genetics*
Phenotype*
Sequence Analysis, DNA

Substances

ADNP protein, human
Homeodomain Proteins
Nerve Tissue Proteins

Publication types

MeSH terms

Substances

Grants and funding