A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21

Motegi, Tomiko; Ohuchi, Masatsugu; Ohtaki, C.; Fujiwara, Kyoji; Enomoto, Suzuyo; Hasegawa, Tomoko; Kishi, Kunikazu; Hayakawa, Hiroshi

doi:10.1007/bf00283374

Cited by 33 publications

(20 citation statements)

References 13 publications

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“…Until now, no recurrent chromosomal abnormalities, such as translocations, inversions, duplications or deletions, have been described in neoplasia for the chromosome regions 7p22-21 and 12q24.33. However, the locus of ZNF12 (KOX3) is located in a region in which the deletion of the mid-portion of 7p21 is implicated in the formation of craniosynostosis (Motegi et al 1985). Since it is feasible to associate the malfunction of zinc finger proteins with the occurrence of developmental anomalies, it will be of great interest to determine whether the ZNF 12 (KOX 3) locus is deleted in patients with craniosynostosis carrying 7p21.2-21.3 deletions.…”

Section: Discussionmentioning

confidence: 99%

Two human genes encoding zinc finger proteins, ZNF12 (KOX 3) and ZNF 26 (KOX 20), map to chromosomes 7p22-p21 and 12q24.33, respectively

et al. 1991

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Two members of the human zinc finger Krüppel family, ZNF 12 (KOX 3) and ZNF 26 (KOX 20), have been localized by somatic cell hybrid analysis and in situ chromosomal hybridization. The presence of individual human zinc finger genes in mouse-human hybrid DNAs was correlated with the presence of specific human chromosomes or regions of chromosomes in the corresponding cell hybrids. Analysis of such mouse-human hybrid DNAs allowed the assignment of the ZNF 12 (KOX 3) gene to chromosome region 7p. The ZNF 26 (KOX 20) gene segregated with chromosome region 12q13-qter. The zinc finger genes ZNF 12 (KOX 3) and ZNF 26 (KOX 20) were localized by in situ chromosomal hybridization to human chromosome regions 7p22-21 and 12q24.33, respectively. These genes and the previously mapped ZNF 24 (KOX 17) and ZNF 29 (KOX 26) genes, are found near fragile sites.

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Section: Discussionmentioning

confidence: 99%

Two human genes encoding zinc finger proteins, ZNF12 (KOX 3) and ZNF 26 (KOX 20), map to chromosomes 7p22-p21 and 12q24.33, respectively

et al. 1991

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“…Subsequent karyotyping with improved resolution of other patients allowed to exclude band 7p15 and to subsequently narrow down the locus for craniosynostosis to subband 7p21.1 [Bianchi et al, 1981;Fryns et al, 1985;Marks et al, 1985;Motegi et al, 1985;García-Esquivel et al, 1986;Schömig-Spingler et al, 1986;Speleman et al, 1989;Zackai and Stolle, 1998]. Similarly, loci for craniosynostosis on chromosome arms 2q, 5q, 9p, 11q, 14q, 17p, 17q, and 19p have been identified [Rutten et al, 1978;Lippe et al, 1980;Fryns et al, 1986;Stratton et al, 1986;Lucas et al, 1987;Lewanda et al, 1995;Thomas et al, 1996;Lemyre et al, 1998;Shiihara et al, 2004;Lyon et al, 2015].…”

Section: Craniosynostosis Gene Identificationmentioning

confidence: 99%

Structural Genome Variations Related to Craniosynostosis

Poot¹

2018

Mol Syndromol

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Craniosynostosis refers to a condition during early development in which one or more of the fibrous sutures of the skull prematurely fuse by turning into bone, which produces recognizable patterns of cranial shape malformations depending on which suture(s) are affected. In addition to cases with isolated cranial dysmorphologies, craniosynostosis appears in syndromes that include skeletal features of the eyes, nose, palate, hands, and feet as well as impairment of vision, hearing, and intellectual development. Approximately 85% of the cases are nonsyndromic sporadic and emerge after de novo structural genome rearrangements or single nucleotide variation, while the remainders consist of syndromic cases following mendelian inheritance. By karyotyping, genome wide linkage, and CNV analyses as well as by whole exome and whole genome sequencing, numerous candidate genes for craniosynostosis belonging to the FGF, Wnt, BMP, Ras/ERK, ephrin, hedgehog, STAT, and retinoic acid signaling pathways have been identified. Many of the craniosynostosis-related candidate genes form a functional network based upon protein-protein or protein-DNA interactions. Depending on which node of this craniosynostosis-related network is affected by a gene mutation or a change in gene expression pattern, a distinct craniosynostosis syndrome or set of phenotypes ensues. Structural variations may alter the dosage of one or several genes or disrupt the genomic architecture of genes and their regulatory elements within topologically associated chromatin domains. These may exert dominant effects by either haploinsufficiency, dominant negative partial loss of function, gain of function, epistatic interaction, or alteration of levels and patterns of gene expression during development. Molecular mechanisms of dominant modes of action of these mutations may include loss of one or several binding sites for cognate protein partners or transcription factor binding sequences. Such losses affect interactions within functional networks governing development and consequently result in phenotypes such as craniosynostosis. Many of the novel variants identified by genome wide CNV analyses, whole exome and whole genome sequencing are incorporated in recently developed diagnostic algorithms for craniosynostosis.

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“…The probes mapped in this study are an important step toward this end. Furthermore, these probes will be valuable tools for the characterization of additional genes on chromosome 7p such as the gene for craniosynostosis postulated in 7p21 (Motegi et al, 1985).…”

Section: Discussionmentioning

confidence: 99%

A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p

et al. 1991

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To identify by reverse 1enetics genes on the short arm of human chromosome 7 ex~ted to ~ involved b:a the regulation of human craniofacial and limb development, we have set up a human mouse somatic cell hybrid panel that divides 7p into 9 fragments. The breakpoints are defined by deletions or translocations involving one chromosome 7 in the cells of the human cell fusion partners. Particularly densely covered with these cytogenetic anchor points is the proximal area of 7p within and around 7p13. The number of cytogenetic mapping points within proximal 7p could be increased by four, using two diploid human celllines with small interstitial deletions in this region for dosage studies. We used Southern blots oftbis panel to assign to 7 q or subregions of 7p more than 300 arbitrary DN A probes or genes that provide reference points for physical mapping of 7p. Three reciprocal translocations with one of the breakpoints in 7pl3 mark tbe location of a gene involved in Greig cephalopolysyndactyly syndrome. To deftne an area in wbich we could identify candidatel fortbis developmental gene, we established a macrorestriction map using probe& ftanking the putative gene region. The Greig translocations were found tobe located within a 630-kb Notl restriction fragment.

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A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21

Cited by 33 publications

References 13 publications

Two human genes encoding zinc finger proteins, ZNF12 (KOX 3) and ZNF 26 (KOX 20), map to chromosomes 7p22-p21 and 12q24.33, respectively

Two human genes encoding zinc finger proteins, ZNF12 (KOX 3) and ZNF 26 (KOX 20), map to chromosomes 7p22-p21 and 12q24.33, respectively

Structural Genome Variations Related to Craniosynostosis

A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p

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