Human Genome Variation · 2017 · 28 citations · 9 references
Life SciencesGeneticsMolecular GeneticsAutism Spectrum DisordersIntellectual DisabilitiesMedical GeneticsAutism Spectrum Disorder GeneticsGenetic DisordersIntellectual Disability GeneticsNeurodevelopmental DisordersNeurodevelopmental GeneticsNeurogenetic DisordersAttention Deficit Hyperactivity Disorder ComorbidityAttention-deficit/hyperactivity Disorder GeneticsIntellectual Disability AssociationIntellectual Disability SyndromesNeural Cell Adhesion MoleculesNeurodevelopmental Disorder MutationsSynaptic Cell AdhesionSyndromic Autism Spectrum Disorder
A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4 , GRM8 , and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for the severe ID and characteristics of autism observed in the present patient.
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PAX4 gene variations predispose to ketosis-prone diabetes
Franck Mauvais-Jarvis, Stuart B. Smith, Cédric Le May et al. · Human Molecular Genetics · 2004 · 126 citations · Full text
Christine Tyson, Barbara McGillivray, Chieko Chijiwa et al. · American Journal of Medical Genetics Part A · 2004 · 35 citations