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Article
Multipoint linkage analysis in X-linked Alport syndrome
In order to localize the gene for the X-linked form of Alport syndrome (ATS) more precisely, we performed restriction fragment length polymorphism analysis with nine different X-chromosomal DNA markers in 107 ...
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Article
Pericentric inversion of chromosome 12; a three family study
A pericentric inversion of chromosome 12 has been followed in three large independently ascertained Danish families. Out of a total number of 52 persons examined, 25 were found to carry the inversion. The brea...
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Article
Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene
The X-linked form of Alport syndrome (AS) is caused by mutation in the COL4A5 gene located at Xq22.3 and encoding the α5-chain of type IV-collagen. More than 400 different mutations have so far been detected in t...
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Article
Establishment of a pig fibroblast-derived cell line for locus-directed transgene expression in cell cultures and blastocysts
We report the establishment of a spontaneously immortalized pig cell line designated Pig Flip-in Visualize (PFV) for locus-directed transgene expression in pig cells and blastocysts. The PFV cell line was isol...
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Article
Open AccessDetailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
Imerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B12
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Article
Transcriptional regulator PRDM12 is essential for human pain perception
Geoffrey Woods, Jan Senderek and colleagues show that biallelic mutations in PRDM12 cause congenital insensitivity to pain. They further show that PRDM12 is expressed in nociceptors and their progenitors and part...
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Article
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Nat. Genet. 47 803–808 (2015); published online 25 May 2015; corrected after print 8 July 2015 In the version of this article initially published, there was an error with the affiliations for author Roman Chra...
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Article
Open AccessOdonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation
Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the...
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Article
Open AccessThe first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report
An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protei...
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Article
Open AccessMoebius sequence –a multidisciplinary clinical approach
Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic co...
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Article
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia
Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), ...
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Article
Open AccessDNA hypermethylation and differential gene expression associated with Klinefelter syndrome
Klinefelter syndrome (KS) has a prevalence ranging from 85 to 250 per 100.000 newborn boys making it the most frequent sex chromosome aneuploidy in the general population. The molecular basis for the phenotypi...
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Article
Open AccessA novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature
Primary familial brain calcification is a rare autosomal dominant or recessive neurodegenerative disease, characterized by bilateral brain calcifications in different areas of the brain. It is a clinically het...
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Article
Open AccessSkewness of X-chromosome inactivation increases with age and varies across birth cohorts in elderly Danish women
Mosaicism in blood varies with age, and cross-sectional studies indicate that for women, skewness of X-chromosomal mosaicism increases with age. This pattern could, however, also be due to less X-inactivation ...
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Article
Open AccessDetection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease
Autosomal recessive polycystic kidney disease is a cystic kidney disease with early onset and clinically characterized by enlarged echogenic kidneys, hypertension, varying degrees of kidney dysfunction, and li...
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Article
Open AccessWhole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip
Developmental dysplasia of the hip (DDH) is a common condition involving instability of the hip with multifactorial etiology. Early diagnosis and treatment are critical as undetected DDH is an important cause ...