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PubMed2000

A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice.

Polydactyly is a common malformation of vertebrate limbs. In humans a major locus for nonsyndromic pre-axial polydactyly (PPD) has been mapped previously to 7q36. The mouse Hemimelic extra-toes (Hx) mutation maps to a homologous chromosome segment and has been proposed to affect a homologous gene. To understand the molecular changes underlying PPD, we used a positional cloning approach to identify the gene or genes disrupted by the Hx mutation and a closely linked limb mutation, Hammertoe (Hm). High resolution genetic mapping identified a small candidate interval for the mouse mutations located 1.2 cM distal to the Shh locus. The nonrecombinant interval was completely cloned in bacterial artificial chromosomes and searched for genes using a combination of exon trapping, sample sequencing, and mapping of known genes. Two novel genes, Lmbr1 and Lmbr2, are entirely within the candidate interval we defined genetically. The open reading frame of both genes is intact in mutant mice, but the expression of the Lmbr1 gene is dramatically altered in developing limbs of Hx mutant mice. The correspondence between the spatial and temporal changes in Lmbr1 expression and the embryonic onset of the Hx mutant phenotype suggests that the mouse Hx mutation may be a regulatory allele of Lmbr1. The human ortholog of Lmbr1 maps within the recently described interval for human PPD, strengthening the possibility that both mouse and human limb abnormalities are due to defects in the same highly conserved gene.

Amino Acid Sequence↗
PubMedDate not supplied

Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association.

Four children are described, (three black and one white, two boys and two girls) with type A postaxial polydactyly. All four of them, in addition, had either a partial or complete atrioventricular septal defect (AVSD). None of these children had associated major malformations. Minor anomalies were observed (e.g., two patients with hypersegmentation of the sternal segments, one patient with undescended testes, one patient with hypoplastic lumbar vertebra, and one patient with a degree of craniofacial abnormality). Chromosome analysis was carried out for three of the four patients, and was normal in all of them. It is suggested that there is a specific association between type A postaxial polydactyly and the AVSD found in each of these patients. This picture does not conform to, but bears some resemblance to, the Ellis-van Creveld syndrome.

Child↗
PubMed1987

Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Thirteen newborns with lethal short rib-polydactyly (SRP) have been reviewed, 11 with SRP type III (Verma-Naumoff) and 2 with SRP type II (Majewski). In the former group there were three sets of siblings. The excess of males with SRP type III (Verma-Naumoff) is confirmed in this present study. A high frequency of phenotypic females including sex-reversed constitutional males with SRP type I (Saldino-Noonan) is in marked contrast to these findings in SRP type III. Possible hypotheses include variable expressivity in non-Majewski short rib-polydactyly syndromes with sex-reversed and constitutional female cases tending to show more severe phenotypic expression both in terms of major anomalies and skeletal dysplastic effects.

Bone and Bones↗
PubMed2004

Short rib polydactyly syndrome-Type I.

Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and radiological findings in this baby were consistent with SRPS - Type I (Saldino-Noonan Type). The diagnosis of SRPS, as in this case, can be made by antenatal ultrasonography.

Consanguinity↗
PubMed2002

Bilateral preaxial polydactyly: a possible dominant inheritant.

We described families with the preaxial polydactyly in bilateral hands and feet. An analysis of their pedigree strongly suggested that the polydactyly was controlled under the autosomal dominant inheritance. Despite multiple abnormalities, surgical outcomes were quite satisfactory. These cases would be useful for antenatal diagnoses and counseling.

Cesarean Section↗
PubMed1997

Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet.

Mirror hands and feet (MIM, 135750) is a rare congenital anomaly, and mirror-image polydactyly is considered to be a variant of mirror hands and feet. To our knowledge, seven patients with the disorder have been reported in the literature. Parent-to-child transmission was reported in two families, which may indicate a single-gene defect inherited in an autosomal dominant fashion. We had previously encountered a boy with mirror-image polydactyly whose karyotype showed 46,XY,t(2;14) (p23.3;q13) de novo. We hypothesized that at least one of the putative genes responsible for the determination of an anterior-posterior limb pattern is disrupted by a translocation breakpoint. In this study, we identified a yeast artificial chromosome clone spanning a translocation breakpoint at 14q13, and the breakpoint was confirmed to be located between two loci, AFM200ZH4 and D14S306, within a genetic distance of 0.6 cM.

Chromosome Mapping↗
PubMed2002

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterized by mirror-image duplication of digits. To isolate the gene responsible for MIP, we performed translocation breakpoint cloning from an MIP patient with t(2;14)(p23.3;q13). We isolated a good candidate gene for MIP that was disrupted by the translocation of the patient. We had previously con structed a 1.2-megabase bacterial artificial chromosome (BAC)/P1-derived artificial chromosome (PAC) contig covering the 14q13 breakpoint of t(2;14)(p23.3;q13). From a 500-kb segment consisting of seven BAC/PAC clones in the contig, we isolated a novel gene (the mirror-image polydactyly 1 gene, designated as MIPOL1, GenBank Accession No. AY059470), in addition to the hepatocyte nuclear factor 3 alpha gene (HNF3A, GenBank Accession No. XM 007360). MIPOL1 spans about 350kb, comprises 15 exons, and encodes 442 amino acids. Northern blot analysis revealed that MIPOL1 expression is definite but very weak in adult heart, liver, skeletal muscle, kidney, and pancreas, and in fetal kidney. In view of the genome sequence and the contig map constructed, the 14q13 breakpoint of the patient was identified as located in intron 11 of MIPOL1, indicating that the gene was disrupted by the translocation, and that the breakage resulted in MIPOL1 protein truncation. Whole-mount in situ hybridization in mouse resulted in mouse Mipol1 signals all over E10.5-E13.5 mouse embryos. Two other unrelated patients with limb anomalies similar to MIP were subjected to mutation analysis of MIPOL1, but none had any mutations. We then isolated BAC clones from the other breakpoint, 2p23.3. A search for genes and expressed sequence tags in a more than 300-kb region around the 2p23.3 breakpoint found only the neuroblastoma-amplified protein gene (NAG, GenBank Accession No. NM 015909), which is located at least 50kb centromeric to the breakpoint and is not likely to be related to MIP. MIPOL1 is a good candidate gene for the MIP type of anomaly.

Chromosomes, Human, Pair 14↗
PubMed1994

Neuro-glial neurotrophic interaction in the S-100 beta retarded mutant mouse (Polydactyly Nagoya). I. Immunocytochemical and neurochemical studies.

The homozygote of a mouse strain with genetic polydactyly (Polydactyly Nagoya; Pdn) shows several brain abnormalities, and significant decrease of S-100 beta in the brain. In order to clarify the effects of the retarded production of S-100 beta on the development of monoaminergic neuronal systems and supporting glial cells, immunocytochemical studies of tyrosine hydroxylase (TH), serotonin (5-HT), S-100 beta and glial fibrillary acidic protein (GFAP). In addition, high-performance liquid-chromatography (HPLC) measurements of serotonin and 5-hydroxyindoleacetic acid (5-HIAA) of homozygote (Pdn/Pdn) mouse were examined, and the results were compared with those of other genotypes; heterozygote (Pdn/+) and wild type (+/+) mice. In all types of mice, S-100 beta positive cells and serotonergic fibers were widely distributed throughout the brains and serotonergic cell bodies were located in the brainstem. However, the hippocampus and caudo-dorsal cortex of Pdn/Pdn mouse were markedly reduced in S-100 beta positive cells and in serotonergic fibers. Furthermore, abnormal distribution of GFAP positive cells and fibers were observed in the neocortex and hippocampus of Pdn/Pdn brain. No differences were seen in the distribution of TH neurons or fibers distribution. In the HPLC study, the content of 5-HT and 5-HIAA of the hippocampus and cortex of Pdn/Pdn mouse was lower than those of Pdn/+ and +/+ mice. The present results suggest that the developmental defect of serotonergic fibers in the Pdn mutant mouse is correlate to the deficiency of S-100 beta in the astrocyte of this mutant.

Animals↗
PubMed1994

Neuro-glial neurotrophic interaction in the S-100 beta retarded mutant mouse (Polydactyly Nagoya). II. Co-cultures study.

The homozygote of a mouse strain with genetic polydactyly (Polydactyly Nagoya, Pdn) shows several brain abnormalities, and significant decrease of S-100 beta in the brain [17]. An accompanying paper [18] demonstrates that the hippocampus and caudo-dorsal cortex of homozygote (Pdn/Pdn) mouse were markedly reduced in S-100 beta positive astrocytes and serotonergic fibers, and the content of 5-HT and 5-HIAA of hippocampus and cortex of Pdn/Pdn mouse was lower than those of heterozygote (Pdn/+) or wild type (+/+) mice. To further clarify the effects of target tissues from different type brains on the development of serotonergic neurons, raphe neurons from Pdn/Pdn or +/+ newborn mice were co-cultured with hippocampus or cortex of +/+ or Pdn/Pdn newborn mice. The growth of the serotonergic neurons in the mesencephalic raphe tissue dissociated cultures was estimated by measuring the specific uptake of [3H]5-HT. The development of both genotypes (Pdn/Pdn and +/+) of serotonergic neurons was enhanced by co-cultures with target tissues (hippocampus and cortex) of +/+ brain. This effect was not observed in the co-cultures with Pdn/Pdn brain as a source of target tissue. The present results support the idea that the developmental defect of serotonergic fibers in the Pdn mutant mouse is caused by the deficiency of S-100 beta in the astrocyte of this mutant, and suggest that S-100 beta is a serotonergic growth factor. This mutant mouse is a useful in vivo model to study neural-glial neurotrophic interactions.

Animals↗
PubMed1996

Neuro-glial neurotrophic interaction in the S-100 beta retarded mutant mouse (Polydactyly Nagoya). III. Transplantation study.

The hippocampus and caudo-dorsal cortex of the homozygote of polydactyly mutant mouse (Polydactyly Nagoya, Pdn/Pdn) were markedly reduced in S-100 beta positive astrocytes and serotonergic fibers as compared to the heterozygote (Pdn/+) and wild type (+/+) [39]. The Pdn/Pdn mice die within 2 days after birth, so it is impossible to examine postnatal changes. To demonstrate the developmental change of Pdn/Pdn hippocampal tissue, we transplanted hippocampal pieces of neonatal Pdn/Pdn and +/+ mice into the right and left hippocampus of the same adult +/+ mice, respectively, and immunocytochemically examined them. Two weeks after transplantation, +/+ hippocampal tissue contained a large number of glial fibrillary acidic protein (GFAP) and S-100 beta positive astrocytes and a number of serotonergic fibers. While Pdn/Pdn hippocampal tissue contained numerous GFAP positive astrocytes, S-100 beta positive astrocytes and serotonergic fibers were not observed. Two months after transplantation, GFAP and S-100 beta were expressed in the Pdn/Pdn hippocampal tissue similar to the +/+ tissue. Serotonergic fibers were distributed in the +/+ tissue, while no serotonergic fibers were observed in the Pdn/Pdn transplant tissue. In contrast, no difference was observed in the tyrosine hydroxylase positive fibers between Pdn/Pdn and +/+ grafts. The expression of 5-HT1A receptor-like immunoreactivity was higher in the +/+ tissue than that of Pdn/Pdn tissue. The present results suggest that the expression of S-100 beta in the astrocytes of early stage of transplantation is a critical for fiber ingrowth of serotonergic neurons and expressions of 5-HT1A receptor.

Animals↗
PubMedDate not supplied

Femoral facial syndrome with bilateral agenesis of femora and preaxial polydactyly of the feet in a Chinese stillborn.

A female Chinese stillborn with clinical characteristics of femoral facial syndrome is described. Apart from the typical facial features of the syndrome like short nose with broad tip, up-slanting palpebral fissures, cleft lip and cleft palate, micrognathia, and bilateral hypoplastic and malformed pinnae, the case had two rare findings, complete absence of both femora, and preaxial polydactyly in the feet. The combination of these two findings in a single patient had not been reported before. This report also reiterates the rare association between preaxial polydactyly and the femoral facial syndrome.

Abnormalities, Multiple↗
PubMed2006

A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.

We report a new case of megalencephaly and polymicrogyria with post-axial polydactyly and hydrocephalus (MPPH syndrome) in an 18-month-old girl. She was the first child of healthy non-consanguineous parents and measurements at birth were +3 standard deviations (S.D.) for weight, +2 S.D. for length and +4 S.D. for OFC. Ultrasound scan at 24 weeks of gestation (WG) showed mild ventriculomagaly with unique umbilical artery and dacryocystocele. Clinical examination at birth revealed macrosomia with macrocephaly, facial dysmorphism, post-axial polydactyly at the right hand and both feet, and axial hypotonia with hypertonic arms and legs. At 18 months of age, weight was +2 S.D., length was +2 S.D. and OFC was +4 S.D. She remained hypertonic, could not sit and had no hand use. Cerebral magnetic resonance imaging showed stable ventriculomegaly and polymicrogyria located on the frontal and perisylvian region with white matter hypersignal on T2-weighted images. There was no associated visceral malformation. Standard and high-resolution cytogenetic examination, telomeric FISH and array-CGH studies were normal. This case represents the sixth observation of MPPH syndrome as described by Mirzaa et al. in 2004. We provide further neurological follow-up since three out of five index patients were aged 6 months or less. We postulate that macrosomia at birth might be a major feature (five/six cases), with advanced bone age in the two/two investigated cases. White matter abnormalities might be an occasional feature of this syndrome (three/six cases), as well as dacryocystocele, if not coincidental (one/six case). The mode of inheritance of this syndrome remains unknown since there was no significant family history in all reported cases. The search for infracytogenetic chromosomal imbalance was unsuccessful.

Abnormalities, Multiple↗
PubMed2005

Thumb polydactyly with symphalangism.

Three cases of thumb polydactyly in which one of the components demonstrated symphalangism are reported. This is a very rare anomaly and only one similar case could be found in the literature. The rarity of this anomaly was explained by the occurrence of two different abnormal molecular events along two different limb growth axes. Finally, the anomaly does not fit into the classification systems described for thumb polydactyly.

Adult↗
PubMed2006

Misexpression of Sox9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice.

Our previous studies have demonstrated the essential roles of the transcription factor Sox9 in the commitment of mesenchymal cells to a chondrogenic cell lineage and in overt chondrogenesis during limb bud development. However, it remains unknown if Sox9 induces chondrogenesis in mesenchyme ectopically in vivo as a master regulator of chondrogenesis. In this study, we first generated mutant mice in which Sox9 was misexpressed in the limb bud mesenchyme. The mutant mouse embryos exhibited polydactyly in limb buds in association with ectopic expression of Sox5 and Sox6 although markers for the different axes of limb bud development showed a normal pattern of expression. Misexpression of Sox9 stimulated cell proliferation in limb bud mesenchyme, suggesting that Sox9 has a role in recruiting mesenchymal cells to mesenchymal condensation. Second, despite the facts that misexpression of Sonic hedgehog (Shh) induces polydactyly in a number of mutant mice and Shh-null mutants have severely defective cartilage elements in limb buds, misexpression of Sox9 did not restore limb bud phenotypes in Shh-null mutants. Rather, there was no expression of Sox9 in digit I of Hoxa13Hd mutant embryos, and Sox9 partially rescued hypodactyly in Hoxa13Hd mutant embryos. These results provide evidence that Sox9 induces ectopic chondrogenesis in mesenchymal cells and strongly suggest that its expression may be regulated by Hox genes during limb bud development.

Animals↗
PubMed1998

A large family with type IV radial polydactyly.

This study examines one of the largest pedigrees with radial polydactyly type IV (uncomplicated polysyndactyly) comprising a total of 69 individuals, of whom 26 have been affected over six generations. Typical manifestations of the pedigree were bilateral radial and ulnar digital duplications, as well as syndactyly between the middle and ring fingers and the second and third toes. There was no craniofacial anomaly in any of the 17 cases examined physically. This observation suggests that radial polydactyly type IV and Greig craniofacial-synostosis syndrome with similar digital manifestations are clinically-distinct entities.

Fingers↗
PubMed1996

Long-term results of surgical treatment of thumb polydactyly.

One hundred thirteen hands exhibiting thumb polydactyly were treated and followed up for an average of 49 months. Of these, 109 hands were treated by resection of a supernumerary hypoplastic thumb. Radial thumbs were resected in 107 hands and ulnar thumbs in 2 hands. Four hands were treated using a modified Bilhaut procedure. According to a modified Tada's evaluation, the results were evaluated as good in 97 hands, fair in 12 hands, and poor in 4 hands. Patients and/or their parents were satisfied with the results in 100 hands and dissatisfied with the results in 13 hands. The factors that influenced the surgical results were analyzed. The incidence of unsatisfactory results was relatively high in Wassel types 3, 5, and 6 and triphalangeal-type thumb polydactyly. It was higher when the ulnar digit was removed than when the radial digit was removed. The results for those patients treated between 1983 and 1991 were better than for those treated between 1976 and 1982. The type of deformity, type of procedure, and skillfulness of the surgeon were factors in the results after surgery.

Child, Preschool↗