The LMNA gene is ubiquitously expressed and is alternatively spliced to give rise to the nuclear lamina proteins lamin A/C, as well as the truncated product progerin that accumulates in the Hutchinson-Gilford progeria syndrome. Mutations in LMNA can result in a variety of clinical phenotypes, which may involve the skin or skeletal muscles or cause […]
Latest articles
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
Lango-Allen and colleagues studied two families with split hand/split foot malformation and looked for causal mutations using new genome-wide sequencing technology. In one family they identified a deletion that included specific protein-coding regions of DYNC1I1 gene, recently shown to regulate DLX5/6 genes in the developing mouse and zebrafish limbs. In the second family there was […]
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia
Approximately 1% of all men do not produce sufficient amount of sperm, and the genetic basis of the majority of cases is unknown. In two unrelated consanguineous families we first found the chromosomal locations of the defective genes responsible for azoospermia and later identified gene defects in TAF4B and ZMYND15. We screened 60 unrelated azoospermic […]
A Novel Immunodeficiency Syndrome Associated with Partial Trisomy 19p13
Immunodeficiency may be underrecognized in syndromic disorders, in particular in clinical situations where other features are prominent or implicate barrier dysfunctions. We here report on two unrelated male patients showing clear signs of immunodeficiency with impaired antibody production and serious infections, who both exhibit a duplication involving Chromosome 19p13. Presented findings underline that i) patients […]
A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation
KCNJ11 encodes an important component of the potassium channel that plays a critical role in regulating the response of beta cells in the pancrease to changes in blood glucose level. Mutations in this gene can cause inappropriately reduced or elevated insulin secretion. In a large and extended consanguineous Saudi family, we show for the first […]
Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility
The etiology of altered spermatogenesis is unknown in about 40% of cases and a large proportion of it is likely related to still unknown genetic factors. The identification of the “missing” genetic causes is of importance both for genetic counseling and for the development of future etiologic therapies. Our study, by screening over 1200 subjects […]
Prenylation defects in inherited retinal diseases
To fulfil their specialised functions, retinal proteins are located at specific positions in photoreceptor cells. These cells consist of many different compartments. Proteins are transported between these compartments through their binding to other proteins or to membranous vesicles. To interact with other proteins or vesicles, proteins contain a hydrophobic lipid molecule, a prenyl group. Many […]
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
Using the largest patient cohort studied (1052 patients) with Rett syndrome (RTT), we investigated whether individual mutations give rise to the observed phenotypic variability. We identified groups of point mutations, deletions and insertions that were particularly severe in both typical and atypical RTT, as well as groups of mutations were less severe. Our data suggest […]
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
Epileptic encephalopathy (EE) describes a group of neurological disorders in which epilepsy is accompanied by an insult to the developing brain. Here we studied an extended family suffering from an early infantile form of EE, where the onset is within the first few months of life. We uncovered a mutation in a gene called NECAP1, […]
The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a significant cause of sudden unexpected cardiac death in any age group. Here we reported a Chinese family with maternally transmitted HCM and atrioventricular block (AVB). DNA sequencing analysis identified a novel homoplasmic 2336T>C mutation, which disturbs the 2336U-A2438 base pair in the stem-loop structure of mitochondrial 16S rRNA domain III. […]