Direct duplication of chromosome 1, dir dup(1)(p21.2 → p32) in a Bedouin boy with multiple congenital anomalies

Mohammed, F.M.; Fårag, T I; Gunawardana, Shannon; Al-Digashim, D. D.; Al-Awadi, S A; Al-Othman, S A; Sundareshan, T.S.

doi:10.1002/ajmg.1320320316

Cited by 18 publications

(16 citation statements)

References 4 publications

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“…Of these, only three have common breakpoints at p21 and p31, which make a comparison difficult [Schurman et al, 1987;Hoeschstetter et al, 1995; and case 1 from this series]. For this reason, it would be interesting if molecular studies demonstrate a maternal origin in four other de novo cases who survived into early infancy [Lo et al, 1998;Mohammed et al, 1989;Wieacker et al, 1996; and case 2 of this series]. Case 2 from this series is also unique because of the craniosynostosis with plagiocephaly and the minimal phenotypic overlap with previous patients.…”

Section: Discussionmentioning

confidence: 89%

“…Two cases were products of maternal translocations [Schurman et al, 1987;Hoechstetter et al, 1995], whereas all the others were de novo intrachromosomal duplications [Cousineau et al, 1981;Elejalde et al, 1984;Dhellemmes et al, 1988;Lo et al, 1998;Mohammed et al, 1989;Wieacker et al, 1996]. Two cases were products of maternal translocations [Schurman et al, 1987;Hoechstetter et al, 1995], whereas all the others were de novo intrachromosomal duplications [Cousineau et al, 1981;Elejalde et al, 1984;Dhellemmes et al, 1988;Lo et al, 1998;Mohammed et al, 1989;Wieacker et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

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De novo partial duplications 1p: Report of two new cases and review

Garcia-Heras¹,

Corley²,

Garcia³

et al. 1999

Am. J. Med. Genet.

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We describe two de novo intrachromosomal duplications of 1p. One case is a dir ins dup(1)(q21p21p31) in a newborn girl with low birth weight, growth retardation, and tetralogy of Fallot. The other is a 10-month-old girl with developmental delay, craniosynostosis, plagiocephaly, and an inv dup 1p34.1p31. Although, these patients have manifestations in common with previous cases, they do not establish a syndrome. Interestingly, all males with duplications spanning 1p31 had genital anomalies, whereas females with duplications of the same region had normal genitalia. Thus, genes within 1p31 appear to control the development of male genitalia and tentatively exclude effects of tda1, a sex-determining gene in a region of mouse chromosome 4 syntenic to 1p36 in man. However, it is necessary to identify the human tda1 homologue and candidate genes within 1p31 before drawing final conclusions.

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Section: Discussionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 99%

De novo partial duplications 1p: Report of two new cases and review

Garcia-Heras¹,

Corley²,

Garcia³

et al. 1999

Am. J. Med. Genet.

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“…The phenotype of human female that have a wnt4 mutation is similar to that of female wnt4 knockout mice4. Individuals who have a duplication of the chromosome containing the wnt4 gene exhibit sex reversal56. In addition to humans and mice, ovarian wnt4 expression has been reported in a range of mammals, including the bonnet macaque ( Macaca radiata )7, tammar wallaby ( Macropus eugenii )8, and goats ( Capraaegagrus hircus )9.…”

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confidence: 98%

Cloning and characterization of wnt4a gene and evidence for positive selection in half-smooth tongue sole (Cynoglossus semilaevis)

Zhu

Liu

et al. 2014

Sci Rep

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Wnt4 gene plays a role in developmental processes in mammals. However, little is known regarding its function in teleosts. We cloned and characterized the full-length half-smooth tongue sole (Cynoglossus semilaevis) wnt4a gene (CS-wnt4a). CS-wnt4a cDNA was 1746 bp in length encoding 353aa. CS-wnt4a expression level was highest in the testis, and gradually increased in the developing gonads until 1 year of age. In situ hybridization revealed that CS-wnt4a expression level was highest in stage II oocytes and sperm in the adult ovary and testis, respectively. CS-wnt4a expression level was significantly up-regulated in the gonads after exposure to high temperature. The level of methylation of the CS-wnt4a first exon was negatively correlated with the expression of CS-wnt4a. The branch-site model suggested that vertebrate wnt4a differed significantly from that of wnt4b, and that the selective pressures differed between ancestral aquatic and terrestrial organisms. Two positively selected sites were found in the ancestral lineages of teleost fish, but none in the ancestral lineages of mammals. One positively selected site was located on the α-helices of the 3D structure, the other on the random coil. Our results are of value for further study of the function of wnt4 and the mechanism of selection.

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“…An interstitial dup (1p) involving the p32-p21.2 region associated with severe intrauterine growth retardation and an inguinal hernia was reported by Dhellemmes et al 47. Direct duplication of chromosome 1, dir dup(1) p21.2-p32 with multiple congenital anomalies including an inguinal hernia was also reported 48. Similarly, a girl has been described with multiple congenital anomalies, including an omphalocele but with a diploid/tetraploid karyotype and mosaicism for a translocation involving chromosome band 1p32 [46,XX,t(1;6)(p32;q13)] 49.…”

Section: Discussionmentioning

confidence: 97%

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

et al. 2012

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Background Omphalocele is a congenital birth defect characterised by the presence of internal organs located outside of the ventral abdominal wall. The purpose of this study was to identify the underlying genetic mechanisms of a large autosomal dominant Caucasian family with omphalocele. Methods and findings A genetic linkage study was conducted in a large family with an autosomal dominant transmission of an omphalocele using a genome-wide single nucleotide polymorphism (SNP) array. The analysis revealed significant evidence of linkage (non-parametric NPL = 6.93, p=0.0001; parametric logarithm of odds (LOD) = 2.70 under a fully penetrant dominant model) at chromosome band 1p31.3. Haplotype analysis narrowed the locus to a 2.74 Mb region between markers rs2886770 (63014807 bp) and rs1343981 (65757349 bp). Molecular characterisation of this interval using array comparative genomic hybridisation followed by quantitative microsphere hybridisation analysis revealed a 710 kb duplication located at 63.5–64.2 Mb. All affected individuals who had an omphalocele and shared the haplotype were positive for this duplicated region, while the duplication was absent from all normal individuals of this family. Multipoint linkage analysis using the duplication as a marker yielded a maximum LOD score of 3.2 at 1p31.3 under a dominant model. The 710 kb duplication at 1p31.3 band contains seven known genes including FOXD3, ALG6, ITGB3BP, KIAA1799, DLEU2L, PGM1, and the proximal portion of ROR1. Importantly, this duplication is absent from the database of genomic variants. Conclusions The present study suggests that development of an omphalocele in this family is controlled by overexpression of one or more genes in the duplicated region. To the authors’ knowledge, this is the first reported association of an inherited omphalocele condition with a chromosomal rearrangement.

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Direct duplication of chromosome 1, dir dup(1)(p21.2 → p32) in a Bedouin boy with multiple congenital anomalies

Cited by 18 publications

References 4 publications

De novo partial duplications 1p: Report of two new cases and review

De novo partial duplications 1p: Report of two new cases and review

Cloning and characterization of wnt4a gene and evidence for positive selection in half-smooth tongue sole (Cynoglossus semilaevis)

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

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