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At least 739 records · Page 41Linked to original sources
PubMed1992

Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.

We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz-Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.

Abnormalities, Multiple↗
PubMed1992

Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.

We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.

Abnormalities, Multiple↗
PubMed1994

Ectodermal dysplasias: a clinical classification and a causal review.

We present a casual review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X-linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion.

Chromosome Mapping↗
PubMed1994

Oculo-ectodermal syndrome: a new case.

We report on a girl with aplasia cutis congenita, epibulbar dermoids, and macrocephaly. To our opinion she has the same ocular-ectodermal syndrome as described by Toriello et al. [Am J Med Genet 45: 764-766, 1993].

Dermoid Cyst↗
PubMed2001

Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings.

We report a brother and sister with ectodermal dysplasia, ectrodactyly, and macular dystrophy (the EEM syndrome). Both children had abnormalities of the hands and the hair, and bilateral macular degeneration. The clinical picture in both is similar to, but less severe than, that described in the previously reported cases of this rare syndrome. Even though the parents are not related, they are both of Jewish Yemenite origin, and the possibility of a common ancestor cannot be ruled out. This would suggest autosomal recessive inheritance. The clinical picture in these patients suggests either variable expression or genetic heterogeneity in the EEM syndrome and further delineates the clinical and genetic spectrum of this condition.

Abnormalities, Multiple↗
PubMed2003

18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.

Abnormalities, Multiple↗
PubMed2003

X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. The gene responsible for this pleiotropic syndrome (ED1) consists of 12 exons, 8 of them coding for a transmembrane protein (ectodysplasin-A; EDA-A) involved in the developmental process of epithelial-mesenchymal interaction. ED1 mutations that cause alterations in this protein lead to the XLHED phenotype. The major objective of the present study was to detect ED1 mutations in four Brazilian families with the XLHED phenotype and to compare them to the more than 60 different mutations already reported. DNA of the EDA-A coding exons was amplified by PCR, and single strand conformation analysis (SSCA) of the electrophoretic bands was carried out in polyacrylamide gel stained with silver nitrate. Two of these four families showed altered DNA band patterns. Subsequent DNA sequencing of the two mutated exons showed: (1) a 36 nucleotide deletion at exon 5 responsible for the loss of four Gly-X-Y repeats of the collagen subdomain of EDA-A; (2) a guanine deletion at exon 6 (966 or 967 sites) that alters EDA-A after amino acid 241 and leads to a premature ending at amino acid 279. This mutation at exon 6 seems not to have been reported previously and determines a truncated EDA-A without a part of its extracellular domain that contains the whole TNF homologue subdomain. These two DNA mutations are compatible with the XLHED phenotype. In the other two families the PCR-SSCA methodology was unable to detect any mutation responsible for the XLHED phenotype.

Brazil↗
PubMed2006

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

We report on the clinical and molecular abnormalities in a 7-month-old girl and her mother with an ectodermal dysplasia disorder that most closely resembles Rapp-Hodgkin syndrome (RHS). At birth, the child had bilateral cleft palate, a narrow pinched nose, small chin, and hypoplastic nipples, and suffered from respiratory distress, feeding difficulties, and poor weight gain, although developmental progress was normal. Her mother had a cleft palate, sparse hair, high forehead, dental anomalies, a narrow nose, dysplastic nails, and reduced sweating. Sequencing of the p63 gene in genomic DNA from both individuals revealed a heterozygous frameshift mutation, 1721delC, in exon 14. This mutation has not been described previously and is the seventh report of a pathogenic p63 gene mutation in RHS. The frameshift results in changes to the tail of p63 with the addition of 90 missense amino acids downstream and a delayed termination codon that extends the protein by 21 amino acids. This mutation is predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is considerable overlap between the molecular pathology of RHS and Hay-Wells syndrome, with identical mutations in some cases, and that these two disorders may in fact be synonymous.

Adult↗
PubMed2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

A 31-year-old male patient with ectodermal dysplasia and acanthosis nigricans is described. Clinical findings included hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early onset loss of permanent dentition, mental retardation, and acanthosis nigricans. The findings suggest the diagnosis of Lelis syndrome, as described on the basis of seven unrelated cases. A review concerning this condition is also presented.

Abnormalities, Multiple↗
PubMed1987

Anthropometric analysis of the face in hypohidrotic ectodermal dysplasia: a family study.

Sixteen individuals with hypohidrotic ectodermal dysplasia (HED) were compared to normal standards as well as to 16 unaffected family members by using a series of 20 anthropometric measurements of the head and face. Individuals with HED were generally smaller than normal controls or their unaffected relatives. However, this size reduction was not uniform. Instead, it was most evident in the anterior-posterior dimensions of the lower two-thirds of the face, in facial height, and in the size of the ears, nose, and mouth. A stepwise discriminant function analysis indicated that a function constructed from four variables (depth of the lower face, width of the nose, mandibular arc, and total facial height) could accurately classify 96.7% of the 32 individuals in the combined sample of affected and unaffected individuals. These findings demonstrated that the face of individuals with HED is unique and can be useful in its diagnosis. Additional studies are needed to determine if similar-though-less-pronounced facial abnormalities can be used to detect minimally affected gene carriers of this presumably X-linked condition.

Adolescent↗
PubMed1979

Cell death during detachment of the lens rudiment from ectoderm in the chick embryo.

The distribution and cytological characters of physiological cell death associated with formation of the lens vesicle in the chick embryo was studied by means of vital staining, light and electron microscopy. We have established a constant pattern of cell death which differs in some aspects from that reported for mammals and amphibians. The necrotic process is observed initially in the dorsal part of the lens cup (stage 15). The necrotic area progressively surrounds the lens pore as invagination proceeds (stage 16) and at stage 17 is located in the zone of fusion of the invaginated lens. After detachment of the lens (stages 18, 19 and 20) dead cells appear in the ectoderm, in the superficial epithelium of the lens vesicle and in the space between both structures. Ultrastructurally we observe isolated dead cells in different stages of degeneration and in phagocytosed cells. Phagocytosis is carried out by the neighboring healthy epithelial cells. Phagocytic activity was detected concomitant with the beginning of the necrotic process. Cell fragments were occasionally detected within the lens cavity.

Animals↗
PubMed1982

Early pectoral fin development and morphogenesis of the apical ectodermal ridge in the killifish, Aphyosemion scheeli.

Using scanning electron microscopy it has been found that in the killifish the distal epithelium of the pectoral fin bud forms a morphologically distinct apical ectodermal ridge along its entire distal margin. This ridge is a relatively more prominent feature than its counterpart in various tetrapod systems. At a later stage the ridge becomes folded internally and elongates distally marking the transformation of the ridge into a fin fold. By continued distal growth the fin fold develops into a semicircular swimming-paddle. Collagenous rays or actinotrichia differentiate in a highly ordered arrangement close to the epithelial basement membrane within the space enclosed by this elongating fin fold and apparently support the early swimming-paddle. During the ridge-to-fold transition the fin bud displays a dorsal deflection of approximately 45 degrees and a caudalward rotation about the axis of the fin itself. This change in orientation results in close apposition of the developing fin structure to the flank.

Animals↗
PubMed2005

Dlx genes, p63, and ectodermal dysplasias.

Many events in vertebrate morphogenesis and organogenesis develop from epithelial/mesenchymal interactions. These processes involve a series of sequential and reciprocal interactions between the thickened epithelial sheets and underlying mesenchymal cells. Much has been learned from in vitro assays and knockout experiments in mice on the early signaling molecules that regulate the initial stages of the epithelial/mesenchymal interactions. In this review, we discuss effectors of these initial signals, specifically the p63 and Dlx families of transcription factors, that play central roles in embryonic patterning and regulation of different developmental processes, and provide a review of some of the mutations in these genes that have been associated with ectodermal dysplasias (EDs).

Animals↗
PubMed2005

Genetic locus half baked is necessary for morphogenesis of the ectoderm.

The zebrafish epiboly mutants partially block epiboly, the vegetalward movement of the blastoderm around the giant yolk cell. Here, we show that the epiboly mutations are located near the centromere of Linkage Group 7 in a single locus, termed the half baked locus. Nevertheless, except for the similar mutants lawine and avalanche, we find the epiboly traits of each of the alleles to be distinguishable, forming an allelic series. Using in situ analysis, we show that the specification and the formation of the germ layers is unaffected. However, during early gastrulation, convergence movements are slowed in homozygous and zygotic maternal dominant (ZMD) heterozygous mutants, especially in the epiblast layer of the blastoderm. Using triple-mutant analysis with squint and cyclops, we show that ablating involution and hypoblast formation in hab has no effect on the epiboly phenotype on the ventral and lateral sides of the embryo, suggesting that the hypoblast has no role in epiboly. Moreover, the triple mutant enhances the depletion of cells on the dorsal side of the embryo, consistent with the idea that convergence movements are defective. Double-mutant analysis with one-eyed pinhead reveals that hab is necessary in the ectodermal portion of the hatching gland. In ZMD heterozygotes, in addition to the slowing of epiboly, morphogenesis of the neural tube is abnormal, with gaps forming in the midline during segmentation stages; later, ectopic rows of neurons form in the widened spinal cord and hindbrain. Cell transplantation reveals that half baked acts both autonomously and nonautonomously in interactions among cells of the forming neural tube. Together, these results suggest that half baked is necessary within the epiblast for morphogenesis during both epiboly and neurulation and suggest that the mechanisms that drive epiboly possess common elements with those that underlie convergence and extension.

Alleles↗
PubMed2005

Nuclear beta-catenin promotes non-neural ectoderm and posterior cell fates in amphioxus embryos.

In vertebrate development, Wnt/beta-catenin signaling has an early role in specification of dorsal/anterior identity and a late one in posterior specification. To understand the evolution of these roles, we cloned beta-catenin from the invertebrate chordate amphioxus. The exon/intron organization of beta-catenin is highly conserved between amphioxus and other animals including a cnidarian, but not Drosophila. In development, amphioxus beta-catenin is concentrated in all nuclei from the 16-cell stage until the onset of gastrulation when it becomes undetectable in presumptive mesendoderm. Li(+), which up-regulates Wnt/beta-catenin signaling, had no detectable effect on axial patterning when applied before the late blastula stage, suggesting that a role for beta-catenin in specification of dorsal/anterior identity may be a vertebrate innovation. From the mid-gastrula through the neurula stage, the highest levels of nuclear beta-catenin are around the blastopore. In the early neurula, beta-catenin is down-regulated in the neural plate, but remains high in adjacent non-neural ectoderm. Embryos treated with Li(+) at the late blastula stage are markedly posteriorized and lack a neural plate. These results suggest that in amphioxus, as in vertebrates, down-regulation of Wnt/beta-catenin signaling in the neural plate is necessary for maintenance of the neuroectoderm and that a major evolutionarily conserved role of Wnt/beta-catenin signaling is to specify posterior identity and pattern the anterior/posterior axis.

Animals↗
PubMed2006

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair, and teeth. The X-linked form of the disease, caused by mutations in the ED1 gene, represents the majority of HED cases. Autosomal-dominant and -recessive forms occur occasionally and result from mutations in at least two genes: EDAR and EDARADD. These different forms are phenotypically indistinguishable. To better assess the implication of the EDAR gene in HED, we screened for mutations in 37 unrelated HED families or sporadic cases with no detected mutations in the ED1 gene. We identified 11 different mutations, nine of which are novel variants, in two familial and seven sporadic cases. Seven of the 11 are recessive mutations (c.140G>A (p.Cys47Tyr), c.266G>A (p.Arg89His), c.329A>C (p.Asp110Ala), c.442T>C (p.Cys148Arg), c.1208C>T (p.Thr403Met), c.1302G>T (p.Trp434Cys) and c.528+1G>A), and the other four are probably dominant (c.1129C>T (p.Leu377Phe), c.1237A>C (p.Thr413Pro), c.1253T>C (p.Ile418Thr), and c.1259G>A (p.Arg420Gln)). Our study demonstrates that EDAR is implicated in about 25% of non-ED1 HED, and may account for both autosomal-dominant and -recessive forms. The correlation between the nature and location of EDAR mutations and their mode of inheritance is discussed. A genotype-phenotype relationship was evaluated, since such data could be helpful for genetic counseling.

Amino Acid Sequence↗
PubMed2001

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Mutations in ectodysplasin, the protein product of the EDA or ED1 gene, cause X-linked anhidrotic ectodermal dysplasia. From sixteen families we have identified thirteen mutations, of which nine were novel: a deletion of the entire exon 1, altered splicing site in intron 7 (IVS-2A-->G) and in intron 9 (IVS9+8 C-->G), deletion of 8 bp (1967-1974 nt), four missense mutations (G255C, G255D, W274G, C332Y) and nonsense mutation W274X. Previously identified and the novel mutations form four clusters: 1) at the junction of the transmembrane and extracellular domains, 2) at a putative protease recognition site, possibly affecting cleavage of ectodysplasin, 3) at the trimerizing collagen-like domain, and 4) at regions of high homology to tumor necrosis factor domains. Truncating and splice site mutations occur within the proximal two-thirds of the protein. Our data suggest the functional importance of specific ectodysplasin domains. Hum Mutat 17:349, 2001.

Alternative Splicing↗