Cognition genes on autosomes: the paradox

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies eight novel gene loci
Najmabadi H et al. (2007)
Human Genetics 12: 43–48
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1–p13.3
Uyguner O et al. (2007)
Clinical Genetics 71: 212–219     

DNA methylation and mental retardation

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation
Nan et al. (2007)
Proc Natl Acad Sci U S A 104: 2709–2714
Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMTL (ADD) domain of the chromatin-associated protein ATRX
Argentaro et al. (2007)
Proc Natl Acad Sci U S A 104: 11939–11944     

Susceptibility genes in breast cancer: more is less?

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman et al. (2007)
Nature Genetics 39: 165–167
A common coding variant in CASP8 is associated with breast cancer risk
Cox et al. (2007)
Nature Genetics 39: 352–358
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
Hunter et al. (2007)
Nature Genetics 39: 870–874
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton et al. (2007)
Nature 447: 1087–1093
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer
Stacey et al. (2007)
Nature Genetics 39: 865–869     

A life without pain? Hedonists take note

An SCN9A channelopathy causes congenital inability to experience pain
Cox et al. (2006)
Nature 444: 894–898
Loss-of-function mutations in the Na_v1.7 gene underlie congenital indifference to pain in multiple human populations
Goldberg et al. (2007)
Clin Genet 71: 311–319
A stop codon mutation in SCN9A causes lack of pain sensation
Ahmad et al. (2007)
Hum Mol Genet 16: 2114–2121
'We cannot learn without pain.'– Aristotle     

Genetics of Noonan syndrome – a new gene, and the search is still on

Germline gain-of-function mutations in SOS1 cause Noonan syndrome
Roberts et al. (2007)
Nature Genetics 39: 70–74
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Tartaglia et al. (2007)
Nature Genetics 39: 75–79     

Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations

Noncompaction of the ventricular myocardium is associated with de novo mutation in the beta-myosin heavy chain gene
Budde et al. (2007)
PLoS ONE 2: e1362
Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy
Xin et al. (2007)
Am J Med Genet 143: 2662–2667
Alpha-cardiac actin mutations produce atrial septal defects
Matsson et al. (2008)
Hum Mol Genet 17: 256–265     

RPGRIP1: a novel ciliary gene involved in cerebellar disorders

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Delous et al. (2007)
Nature Genetics 39: 875–881
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin interactor, cause Joubert syndrome
Arts et al. (2007)
Nature Genetics 39: 882–888     

An X-linked microcephaly syndrome caused by disruptions of CASK implicates the CASK-TBR1-RELN pathway in human brain development

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Najm J et al.. (2008)
Nature Genetics 40: 1065–1067.     

CMT4J: Charcot-Marie-Tooth disorder caused by mutations in FIG4

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
Chow et al. (2007)
Nature 448: 68–72. Epub 17 June 2007     

Genetic modifiers of ataxin-3-mediated neurodegeneration: approaching protein misfolding from different angles

Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila
Bilen et al. (2007)
PLoS Genetics 3: 1950–1963     

CASK: a scaffold protein involved in X-linked brain malformation phenotypes

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Najm et al. (2008)
Nature Genetics 40: 1065–1067     

Insights into the genetics of severe congenital neutropenia

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Klein et al. (2007)
Nature Genetics 39: 86–92     

A new STAR on the horizon

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Unger et al. (2008)
Nature Genetics 40: 287–289     

ALAS, our frailty is the cause … of a new for form of protoporphyria

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
Whatley et al. (2008)
The American Journal of Human Genetics 83: 408–414     

A new function of TFIIH explains the neurological symptoms in trichothiodystrophy

Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
Compe et al. (2007)
Nature Neuroscience 10: 1414–1422     

Unraveling intrinsic genetic factors in type 2 diabetes

A genome-wide association study identifies novel risk loci for type 2 diabetes
Sladek et al. (2007)
Nature 445: 881–885     

SORL1 adds another piece to the complex puzzle of Alzheimer disease genetics

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
Rogaeva et al. (2007)
Nature Genetics 39: 168–177     

LRP6: a link between the multiple disorders of the metabolic syndrome

LRP6 mutation in a family with early coronary disease and metabolic risk factors
Mani et al. (2007)
Science 315: 1278–1282     

Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Mefford H et al.. (2008)
N Eng J Med 359: 1685–1699.