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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
It is demonstrated that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia.
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Replication studies from several populations showed confirming evidence, with families of European ancestry giving strong evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4, and expression studies support a role for MAFBs in palatal development.
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate; moreover, the results for some individual populations from South America and Asia were highly significant.
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
- H. Stanescu, M. Arcos-Burgos, R. Kleta
- Medicine, BiologyThe New England journal of medicine
- 16 February 2011
An HLA-DQA1 allele on chromosome 6p21 is most closely associated with idiopathic membranous nephropathy in persons of white ancestry and may facilitate an autoimmune response against targets such as variants of PLA2R1.
Support for association between ADHD and two candidate genes: NET1 and DRD1
- A. Bobb, A. Addington, J. Rapoport
- Biology, PsychologyAmerican journal of medical genetics. Part B…
- 5 April 2005
Support is provided for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphismsIn ten other candidate genes were not associated with ADHD.
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.
Functional studies revealed that LPHN3 variants are expressed in key brain regions related to attention and activity, affect metabolism in neural circuits implicated in ADHD, and are associated with response to stimulant medication.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
BACKGROUND Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with…
Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11.
The concordance between results from different analytical methods of linkage and the replication of data between two independent studies suggest that these loci truly harbor ADHD susceptibility genes.
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.
Young adult outcomes in the follow‐up of the multimodal treatment study of attention‐deficit/hyperactivity disorder: symptom persistence, source discrepancy, and height suppression
- J. Swanson, L. E. Arnold, Karen Stern
- Psychology, MedicineJournal of child psychology and psychiatry, and…
- 1 June 2017
In the MTA follow-up into adulthood, the ADHD group showed symptom persistence compared to local norms from the LNCG, and within naturalistic subgroups of ADHD cases, extended use of medication was associated with suppression of adult height but not with reduction of symptom severity.