Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

Gläser, Birgitta; Rossier, Eva; Barbi, Gotthold; Chiaie, L. Delle; Blank, C. E.; Vogel, Walther; Kehrer‐Sawatzki, Hildegard

doi:10.1002/ajmg.a.10878

Cited by 15 publications

(18 citation statements)

References 4 publications

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“…Previous associations in this region included the genes MSX2, NKX2‐5 , and NSD1 , none of which were included in the CNV seen in Child 1 (deletion was small and included only ODZ2 ). CNVs at 12p12.3 have been previously associated with language delay, dysmorphic features, and hypotonia [Gläser et al, ; Lamb et al, ]. These previous studies focused on nearby regions and the gene SOX5 , which was not affected by the deletion seen in Child 1.…”

Section: Resultsmentioning

confidence: 99%

The role of candidate‐gene CNTNAP2 in childhood apraxia of speech and specific language impairment

Centanni

Sanmann

Green

et al. 2015

American J of Med Genetics Pt B

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Childhood apraxia of speech (CAS) is a debilitating pediatric speech disorder characterized by varying symptom profiles, comorbid deficits, and limited response to intervention. Specific Language Impairment (SLI) is an inherited pediatric language disorder characterized by delayed and/or disordered oral language skills including impaired semantics, syntax, and discourse. To date, the genes associated with CAS and SLI are not fully characterized. In the current study, we evaluated behavioral and genetic profiles of seven children with CAS and eight children with SLI, while ensuring all children were free of comorbid impairments. Deletions within CNTNAP2 were found in two children with CAS but not in any of the children with SLI. These children exhibited average to high performance on language and word reading assessments in spite of poor articulation scores. These findings suggest that genetic variation within CNTNAP2 may be related to speech production deficits. TP. 2015. The role of candidategene CNTNAP2 in childhood apraxia of speech and specific language impairment.Am J Med Genet Part B 168B:536-543.

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Section: Resultsmentioning

confidence: 99%

The role of candidate‐gene CNTNAP2 in childhood apraxia of speech and specific language impairment

Centanni

Sanmann

Green

et al. 2015

American J of Med Genetics Pt B

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“…Chromosomal rearrangements involving the 12p region result in phenotypes including CL/P or CP[69, 70], including Pallister-Killian syndrome (mosaic isochromosome 12p)[91] (and others (del 12p[92]; Fryns syndrome[93]). However this region has not been previously investigated in non-syndromic CL/P and warrants further investigation.…”

Section: Discussionmentioning

confidence: 99%

Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

Marazita¹,

Lidral²,

Murray³

et al. 2009

Hum Hered

124

121

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Objectives: Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). Methods: We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. Results: Significant (multipoint HLOD ≥3.2) or genome-wide-significant (HLOD ≥4.02) linkage results were found for regions 1q32, 2p13, 3q27-28, 9q21, 12p11, 14q21-24 and 16q24. SNPs in IRF6 (1q32) and in or near FOXE1 (9q21) reached formal genome-wide wFDR-adjusted significance. Further, results were phenotype dependent in that the IRF6 region results were most significant for families in which affected individuals have CL alone, and the FOXE1 region results were most significant in families in which some or all of the affected individuals have CL with CP. Conclusions: These results highlight the importance of careful phenotypic delineation in large samples of families for genetic analyses of complex, heterogeneous traits such as CL/P.

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“…In addition, a cryptic deletion of about 3.6 Mb was found beginning in band 12p11.22, extending to the centromere, and involving the loss of approximately 14 genes. There have been a few reports in the literature of interstitial deletions of chromosome 12p (Glaser et al 2003), with phenotypes including mental retardation, psychomotor retardation, and facial dysmorphism. Our patient had some psychomotor retardation and mild facial dysmorphism.…”

Section: Discussionmentioning

confidence: 99%

Delineation of complex chromosomal rearrangements: evidence for increased complexity

Astbury

Christ

Aughton³

et al. 2004

Human Genetics

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There is an assumption of parsimony with regard to the number of chromosomes involved in rearrangements and to the number of breaks within those chromosomes. Highly complex chromosome rearrangements are thought to be relatively rare, with the risk for phenotypic abnormalities increasing as the number of chromosomes and chromosomal breaks involved in the rearrangement increases. We report here five cases of de novo complex chromosome rearrangements, each with a minimum of four breaks. Deletions were found in four cases, and in at least one case, a number of genes or potential genes might have been disrupted. This study highlights the importance of the detailed delineation of complex rearrangements, beginning with high-resolution chromosome analysis, and emphasizes the utility of fluorescence in situ hybridization in combination with the data available from the Human Genome Project as a means to delineate such rearrangements.

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Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

Cited by 15 publications

References 4 publications

The role of candidate‐gene CNTNAP2 in childhood apraxia of speech and specific language impairment

The role of candidate‐gene CNTNAP2 in childhood apraxia of speech and specific language impairment

Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

Delineation of complex chromosomal rearrangements: evidence for increased complexity

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