New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

Rosenfeld, Jill A.; Lacassie, Yves; El-Khechen, Dima; Escobar, Luis; Reggin, James D.; Heuer, Carolyn; Chen, Emily; Jenkins, Louise S.; Collins, Anthony; Zinner, Samuel H.; Babcock, Melanie; Morrow, Bernice E.; Schultz, Roger A.; Torchia, Beth S.; Ballif, Blake C.; Tsuchiya, Karen D.; Shaffer, Lisa G.

doi:10.1016/j.ejmg.2010.10.002

Cited by 38 publications

(45 citation statements)

References 37 publications

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“…The deletion region in our case overlaps with the deletion regions reported by Garza-Flores et al [2017] and Filges et al [2010]. No overlap was observed with deletion regions reported by Rosenfeld et al [2011]. The genes with a high probability of loss-of-function intolerance (pLi) score in this deletion are: LBR , ENAH , ACBD3 , LIN9 , ITPKB , CDC42BPA , ARF1, TAF5L , GALNT2 , SPRTN , and EGLN1.…”

Section: Discussionsupporting

confidence: 54%

“…Although none of these patients had holoprosencephaly, many had midline defects such as cleft palate, diaphragmatic hernia, along with seizures, mental retardation, and developmental delay [Shaffer et al, 2007]. DISP1 haploinsufficiency alone may not be responsible for all the major features of 1q41q42 syndrome, other genes in the smallest region of overlap are likely to contribute towards the phenotype [Rosenfeld et al, 2011].…”

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confidence: 99%

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1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum

et al. 2019

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Chromosome 1q42.12q42.2 deletions are documented as “disease causing” and show overlapping phenotypes depending on the genes involved in the deletion. In this report, we detected a 5.8-Mb deletion encompassing the chromosome 1q42.12q42.2 region in a 4-year-old boy with hypoplastic corpus callosum, epilepsy, developmental delay, microcephaly, cataract, cleft palate, and skeletal changes. The deletion was de novo. Genotype-phenotype correlations suggest that the major features of 1q42.12q42.2 microdeletion were attributed to the genes with a high probability of loss-of-function intolerance score in this deletion, namely LBR, ENAH, ACBD3, LIN9, ITPKB, CDC42BPA, ARF1, TAF5L, GALNT2, SPRTN, and EGLN1 along with GNPAT.

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Section: Discussionsupporting

confidence: 54%

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confidence: 99%

1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum

et al. 2019

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“…The duplication in patient 1 overlaps the critical region for 1q41q42 microdeletion syndrome [Shaffer at al., 2007;Mazzeu et al, 2010;Rosenfeld et al, 2011]. To the best of our knowledge, the reciprocal microduplication for the 1q41q42 segment has not been described to date.…”

Section: Discussionmentioning

confidence: 99%

Partial 1q Duplications and Associated Phenotype

Morris¹,

Baroneza²,

Teixeira³

et al. 2015

Mol Syndromol

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Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced translocations. The paucity of cases with pure distal 1q duplications has made it difficult to delineate a partial distal trisomy 1q syndrome. Here, we report 2 patients with overlapping 1q duplications detected by G-banding. Array CGH and FISH were performed to characterize the duplicated segments, exclude the involvement of other chromosomes and determine the orientation of the duplication. Patient 1 presents with a mild phenotype and carries a 22.5-Mb 1q41q43 duplication. Patient 2 presents with a pure 1q42.13qter inverted duplication of 21.5 Mb, one of the smallest distal 1q duplications ever described and one of the few cases characterized by array CGH, thus contributing to a better characterization of distal 1q duplication syndrome.

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“…Among the 26 cases with deletions in the 1q41q42 region for which neuroradiology reports and/or MRI scans were available, 19 were from published reports and 7 are newly identified cases (Supplementary Table 1). 3,4,[19][20][21][22][23][24][25][26] Of these 26 cases, 19 patients showed detectable structural brain abnormalities and their SRO (chr1:223 828 382 − 224 034 322; hg19) contains the entire coding regions of CAPN2 and TP53BP2, plus exons 1 and 2 of CAPN8 (Figure 1), whereas in 4 of the remaining 7 cases without brain abnormalities the TP53BP2 locus is not affected (Figures 1a and b).…”

Section: Resultsmentioning

confidence: 99%

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

et al. 2016

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Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome is characterized by characteristic dysmorphic features, intellectual disability and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown. Here, our detailed analysis of the genetic abnormalities of 1q41q42 microdeletion cases identified TP53BP2, which encodes apoptosis-stimulating protein of p53 2 (ASPP2), as a candidate gene for brain abnormalities. Consistent with this, Trp53bp2-deficient mice show dilation of lateral ventricles resembling the phenotype of 1q41q42 microdeletion patients. Trp53bp2 deficiency causes 100% neonatal lethality in the C57BL/6 background associated with a high incidence of neural tube defects and a range of developmental abnormalities such as congenital heart defects, coloboma, microphthalmia, urogenital and craniofacial abnormalities. Interestingly, abnormalities show a high degree of overlap with 1q41q42 microdeletion-associated abnormalities. These findings identify TP53BP2 as a strong candidate causative gene for central nervous system (CNS) defects in 1q41q42 microdeletion syndrome, and open new avenues for investigation of the mechanisms underlying CNS abnormalities.

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New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

Cited by 38 publications

References 37 publications

1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum

1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum

Partial 1q Duplications and Associated Phenotype

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

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