A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy

Am J Med Genet A. 2017 Apr;173(4):1128-1130. doi: 10.1002/ajmg.a.38136. Epub 2017 Feb 27.

Authors

Azeem Siddique¹, Josh Willoughby²; DDD Study; Alisdair McNeill^{1

2

3}

Affiliations

¹ Sheffield Institute for Translational Neuroscience, Sheffield, South Yorkshire, UK.
² Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, South Yorkshire, UK.
³ INSIGNEO Institute for In Silico Medicine, The University of Sheffield, Sheffield, South Yorkshire, UK.

PMID: 28240412
DOI: 10.1002/ajmg.a.38136

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Calcium Channels / genetics*
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 7 / genetics
Comparative Genomic Hybridization
Cytoskeletal Proteins / genetics*
Epilepsy / genetics
Epilepsy / physiopathology
Haploinsufficiency / genetics*
Hepatocyte Growth Factor / genetics
Humans
Intellectual Disability / genetics*
Intellectual Disability / physiopathology
Male
Mutation
Neuropeptides / genetics*
Polymorphism, Single Nucleotide

Substances

CACNA2D1 protein, human
Calcium Channels
Cytoskeletal Proteins
HGF protein, human
Neuropeptides
PCLO protein, human
Hepatocyte Growth Factor