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     

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     

Loss of dynamic histone regulation underlies mental retardation

The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases
Iwase et al. (2007)
Cell 128: 1077–1088
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation
Tahiliani et al. (2007)
Nature 447: 601–606     

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     

Finding bald spots on chromosome 20p11

A genome-wide association scan identifies new susceptibility variants for male pattern baldness on chromosome 20p11
Hillmer et al. (2008)
Nature Genetics 40: 1279–1281
Male-pattern baldness susceptibility locus at 20p11
Richards et al. (2008)
Nature Genetics 40: 1282–1284     

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     

The genetics of brachyolmia: between cilia and cell volume regulation

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
Rock et al. (2008)
Nature Genetics 40 (8): 999–1003     

SYNGAP: bridging the gap between genetic factors and autosomal non-syndromic mental retardation

M/S: mutations in SYNGAP1 in autosomal non-syndromic mental retardation
Hamdan et al. (2009)
The New England Journal of Medicine 360: 599–605     

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     

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     

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     

Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia

tRNA splicing endoluclease mutations cause pontocerebellar hypoplasia.
Budde BS et al.. (2008)
Nature Genetics 40: 1113–1118.     

Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2)

In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia. The syndrome was termed as oculo-palato-cerebral dwarfism. The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. The clinical features were milder than the original cases, and there was no consanguinity. We report a third patient with oculo-palato-cerebral syndrome, supporting autosomal recessive inheritance, and a detailed comparison with the previous cases. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.     

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     

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     

ZFP57 mutations cause an autosomal recessive imprinting disorder

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
Mackay et al. (2008)
Nature Genetics 40: 949–951     

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.     

PCSK1 variants: genetic risk factors for obesity

Common nonsynonymous variants in PCSK1 confer risk of obesity
Benzinou et al. (2008)
Nature Genetics 40: 943–945     

Digital clubbing: finally, a gene

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Uppal et al. (2008)
Nature Genetics 40 (6): 789–793