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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
TLDR
To define the range of phenotypic expression in Treacher Collins syndrome (TCS), mutation analysis in the TCOF1 gene was performed in 46 patients with tentative diagnosis of TCS and the clinical data was evaluated, including a scoring system.
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Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
TLDR
DNA analysis from a 36 year old male with tall-normal stature who asked for genetic counselling for suspected multiple epiphyseal dysplasia confirmed the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus.
View on BMJ
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
TLDR
The results indicate that the great majority of patients with Sotos syndrome are caused by mutations in NSD1, and none of the patients with Weaver syndrome, unclassified overgrowth/ mental retardation and macrocephaly/mental retardation, harbored N SD1 mutations.
View on Nature
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
TLDR
The extension of the GLI3 mutation analysis to 24 new GCPS cases is reported, report the identification of 15 novel mutations present in one of the patient'sGLI3 alleles, and postulate that GCPS may be due either to haploinsufficiency resulting from the complete loss of one gene copy or to functional haplo insufficiency related to compromised properties of this transcription factor such as DNA binding and transactivation.
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Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
TLDR
This work analysed 13 SPG4‐negative families for mutations in the SPG3A gene and identified a mutation in 38% of families, two of which are novel and found both in a family with early onset of symptoms and in a late onset family.
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Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement
TLDR
A large inbred kindred from Oman with a distinct type of spondyloepiphyseal dysplasia (SED) is reported, which resulted in physical handicap in early adulthood and comparison of these patients with other skeletal dysplasias suggests that they represent a previously undescribed variant of SED.
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Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome
TLDR
The authors studied 32 Léri-Weill patients from 18 different German and Dutch families and present clinical, radiological and molecular data, which suggests different genetic etiologies for LWS.
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ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
TLDR
It is suggested that ABCD syndrome is not a separate entity, but an expression of Shah-Waardenburg syndrome, and a homozygous nonsense mutation in exon 3 (R201X of the EDNRB gene was found.
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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
TLDR
The exon-intron structure of the homeobox-containing part of PAX3 is described, complementing earlier descriptions of the 5' part of the gene, and confirms that Waardenburg syndrome is produced by gene dosage effects.
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Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension.
TLDR
A Turkish kindred with a unique form of autosomal dominant hypertension that cosegregates 100% with brachydactyly and maps to chromosome 12p is examined, concluding that this novel form of inherited hypertension resembles essential hypertension.
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