Dataset Information

A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families.

ABSTRACT: Tricho-dento-osseous syndrome (TDO) is characterised by a variable clinical phenotype primarily affecting the hair, teeth, and bone. Different clinical features are observed between and within TDO families. It is not known whether the variable clinical features are the result of genetic heterogeneity or clinical variability. A gene for TDO was localised recently to chromosome 17q21 in four North Carolina families, and a 4 bp deletion in the human distal-less 3 gene (DLX3) was identified in all affected members. A previous genetic linkage study in a large Virginia kindred with TDO indicated possible linkage to the ABO, Gc, and Kell blood group loci. To examine whether TDO exhibits genetic heterogeneity, we have performed molecular genetic analysis to determine whether affected members of this Virginia kindred have the DLX3 gene deletion identified in North Carolina families. Results show that affected subjects (n=3) from the Virginia family have the same four nucleotide deletion previously identified in the North Carolina families. A common haplotype for three genetic markers surrounding the DLX3 gene was identified in all affected subjects in the North Carolina and Virginia families. These findings suggest that all people with TDO who have been evaluated have inherited the same DLX3 gene deletion mutation from a common ancestor. The variable clinical phenotype observed in these North Carolina and Virginia families, which share a common gene mutation, suggests that clinical variability is not the result of genetic heterogeneity at the major locus, but may reflect genetic heterogeneity at other epigenetic loci or contributing environmental factors or both.

SUBMITTER: Price JA

PROVIDER: S-EPMC1051457 | biostudies-other | 1998 Oct

REPOSITORIES: biostudies-other

ACCESS DATA

Publications

A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families.

Price J A JA Wright J T JT Kula K K Bowden D W DW Hart T C TC

Journal of medical genetics 19981001 10

Tricho-dento-osseous syndrome (TDO) is characterised by a variable clinical phenotype primarily affecting the hair, teeth, and bone. Different clinical features are observed between and within TDO families. It is not known whether the variable clinical features are the result of genetic heterogeneity or clinical variability. A gene for TDO was localised recently to chromosome 17q21 in four North Carolina families, and a 4 bp deletion in the human distal-less 3 gene (DLX3) was identified in all a ...[more]

PMID: 9783705

Similar Datasets

Project description:Acephalic spermatozoa syndrome (ASS) is a rare but extremely severe type of teratozoospermia, defined by the presence of a majority of headless flagella and a minority of tail-less sperm heads in the ejaculate. Like the other severe monomorphic teratozoospermias, ASS has a strong genetic basis and is most often caused by bi-allelic variants in SUN5 (Sad1 and UNC84 domain-containing 5). Using whole exome sequencing (WES), we investigated a cohort of nine infertile subjects displaying ASS. These subjects were recruited in three centers located in France and Tunisia, but all originated from North Africa. Sperm from subjects carrying candidate genetic variants were subjected to immunofluorescence analysis and transmission electron microscopy. Moreover, fluorescent in situ hybridization (FISH) was performed on sperm nuclei to assess their chromosomal content. Variant filtering permitted us to identify the same SUN5 homozygous frameshift variant (c.211+1_211+2dup) in 7/9 individuals (78%). SUN5 encodes a protein localized on the posterior part of the nuclear envelope that is necessary for the attachment of the tail to the sperm head. Immunofluorescence assays performed on sperm cells from three mutated subjects revealed a total absence of SUN5, thus demonstrating the deleterious impact of the identified variant on protein expression. Transmission electron microscopy showed a conserved flagellar structure and a slightly decondensed chromatin. FISH did not highlight a higher rate of chromosome aneuploidy in spermatozoa from SUN5 patients compared to controls, indicating that intra-cytoplasmic sperm injection (ICSI) can be proposed for patients carrying the c.211+1_211+2dup variant. These results suggest that the identified SUN5 variant is the main cause of ASS in the North African population. Consequently, a simple and inexpensive genotyping of the 211+1_211+2dup variant could be beneficial for affected men of North African origin before resorting to more exhaustive genetic analyses.

Project description:The social structure of estuarine-resident bottlenose dolphins is complex and varied. Residing in habitats often utilized for resource exploitation, dolphins are at risk due to anthropogenic pressures while still federally protected. Effective conservation is predicated upon accurate abundance estimates. In North Carolina, two estuarine-resident stocks (demographically independent groups) of common bottlenose dolphin have been designated using spatiotemporal criteria. Both stocks are subjected to bycatch in fishing gear. The southern North Carolina estuarine stock was estimated at <200 individuals from surveys in 2006, which is outdated per US guidelines. Thus, we conducted a new capture-mark-recapture survey in 2018, identifying 547 distinct individuals, about three times higher than the prior abundance estimate. We compared those individuals to our long-term photo-identification catalog (1995-2018, n = 2,423 individuals), matching 228 individuals. Of those 228, 65 were also included in the 2013 abundance estimate for the northern North Carolina estuarine stock. Using sighting histories for all individuals in the long-term catalog, we conducted a social network analysis, which is independent of a priori stock assignments. The three primary clusters identified were inconsistent with current stock designations and not defined by spatiotemporal distribution. All three clusters had sighting histories in the estuary and on the coast, however, that with the highest within-cluster associations appeared to use estuarine waters more often. The within-cluster association strength was low for one cluster, possibly due to only part of that cluster inhabiting the southern North Carolina estuarine system. Between-cluster differences occurred in infestation rates by the pseudostalked barnacle, Xenobalanus globicipitis, but that did not predict clusters. We suggest the need to re-evaluate the stock structure of estuarine-resident common bottlenose dolphins in North Carolina and currently have insufficient information to assign an abundance estimate to a currently designated stock.

Dataset Information

A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families.

Publications

A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets