Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Shimada, Shino; Shimojima, Keiko; Okamoto, Nobuhiko; Sangu, Noriko; Hirasawa, Kyoko; Matsuo, Mari; Ikeuchi, Mayo; Shimakawa, Shuichi; Shimizu, Kenji; Mizuno, Seiji; Kubota, Masaya; Adachi, Masao; Saito, Yoshiaki; Tomiwa, Kiyotaka; Haginoya, Kazuhiro; Numabe, Hironao; Kako, Yuko; Hayashi, Ai; Sakamoto, Haruko; Hiraki, Yoko; Minami, Kazunobu; Takemoto, Kiyoshi; Watanabe, Kyoko; Miura, Kiyokuni; Chiyonobu, Tomohiro; Kumada, Takatsune; Imai, Katsumi; Maegaki, Yoshihiro; Nagata, Satoru; Kosaki, Kenjiro; Izumi, Tatsuro; Nagai, Toshiro; Yamamoto, Toshiyuki

doi:10.1016/j.braindev.2014.08.002

Cited by 47 publications

(85 citation statements)

References 48 publications

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“…Our patient showed loss of the proximal region of 1p36, but did not show loss of either the critical region (CR) in reported cases with EA or PRDM16 ( Fig. 2 ), the gene proposed by Shimada et al [2015] in the distal region to be associated with EA. PRDM16 has been found in the region of minimal genomic overlap in individuals with 1p36 deletion syndrome, left ventricular noncompaction, and dilated cardiomyopathy, which was further assessed by Arndt et al [2013] in 2 cohorts of nonsyndromic patients with this type of cardiomyopathy, independently, detecting 3 mutations including a truncation mutant, a frameshift null mutation, and a single missense mutant.…”

Section: Discussionmentioning

confidence: 92%

“…Therefore, it is likely that there are 2 independent loci where haploinsufficiency can contribute to the development of EA, as has been proposed by Jordan et al [2015] and Zaveri et al [2014] for different forms of congenital heart defects (CHD). The distal CR is delimited by the patient described by Digilio et al [2011] and contains both PRDM16 and SKI gene, the latter previously associated with CHD in animal models [Doyle et al, 2013] and human genetic studies [Zhu et al, 2013;Cunnington et al, 2014;Shimada et al, 2015;Zeglinski et al, 2016;Wu et al, 2017] ( Fig. 2 ).…”

Section: Discussionmentioning

confidence: 99%

“…The size of 1p36 deletions is variable with a mean size of 5 Mb (calculated according to data from DECIPHER). Several studies have attempted to map the chromosomal regions in 1p36 associated with diverse phenotypes in patients with 1p36 deletion syndrome, focusing mainly on distal deletions [Shimada et al, 2015]. However, Kang et al [2007] described 5 patients with an unusual phenotype carrying interstitial deletions extending from 1p36.23 to 1p36.11 and proposed a distinct proximal 1p36 deletion syndrome.…”

Section: Identification Of a Newmentioning

confidence: 99%

“…Subtelomeric 1p36 deletion gives rise to a common syndrome, with an incidence of 1: 5,000-1: 10,000 [Heilstedt et al, 2003], characterized by intellectual disability, abnormal language and behavior, craniofacial features, seizures, ocular abnormalities, hearing loss, structural heart defects, and hypotonia [Shimada et al, 2015]. The size of 1p36 deletions is variable with a mean size of 5 Mb (calculated according to data from DECIPHER).…”

Section: Identification Of a Newmentioning

confidence: 99%

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Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

Miranda-Fernández¹,

Ramírez-Oyaga²,

Restrepo

et al. 2018

Mol Syndromol

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Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.96-Mb proximal 1p36 deletion, without loss of PRDM16, who presented with EA and a proximal deletion phenotype. This finding suggests that PRDM16 loss is not required for the development of EA in 1p36 deletions and that the loss of an additional proximal locus in 1p36 is also likely associated with EA. Our data suggest that a distal locus containing the SKI gene and a proximal locus containing the CHD-associated genes RERE and UBE4B are the most probable etiological factors for EA in patients with 1p36 deletion syndrome.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Identification Of a Newmentioning

confidence: 99%

Section: Identification Of a Newmentioning

confidence: 99%

See 2 more Smart Citations

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

Miranda-Fernández¹,

Ramírez-Oyaga²,

Restrepo

et al. 2018

Mol Syndromol

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“…However, a subset of patients may become overweight and obese with hyperphagia and NIDDM [125]. Previous studies observed that obesity was found exclusively in female patients with 1p36 deletion who showed growth restriction during the fetal period [126]. Because patients with 1p36 deletion show hypotonia and hyperphagia with obesity and NIDDM, which are also characteristic features of patients with PWS, some patients with 1p36 deletion may be misdiagnosed as having PWS.…”

Section: P36 Deletion Syndromementioning

confidence: 98%

New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

Stagi¹,

Bianconi²,

Sammarco³

et al. 2017

Adiposity - Omics and Molecular Understanding

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Historically, some genetic syndromes and monogenic forms of obesity have been identified by clinical features and by sequencing candidate genes in patients with severe obesity. The phenotypic expression of genetic factors involved in obesity is variable, thereby allowing to distinguish several clinical pictures of obesity. Monogenic obesity is described as rare and severe early-onset obesity with abnormal feeding behavior and endocrine disorders. Many of the findings emerged from studying families who displayed a classical Mendelian pattern of inheritance. On the contrary, patients with syndromic obesity show a various degree of intellectual disability, different dysmorphic features, and organ-specific abnormalities. But to date, not all involved genes have been identified so far. New diagnostic tools, such as genome-wide studies, array CGH, and whole-exome sequencing, have highlighted more complex models of inheritance, and even more candidate genes were identified. This increase of knowledge may provide insights into the mechanisms involved in the regulation of body weight and finally lead to specific treatments. In these patients, hyperphagia is often a primary phenotypic component. Substantial gaps in understanding the molecular basis of inherited hyperphagia syndromes are present today with a lack of mechanistic targets that can serve as a basis for pharmacologic and behavioral treatments. We have evaluated retrospectively the literature data on weight, body mass index (BMI), clinical features, treatments, and treatment response in pediatric patients with forms of genetic obesity. However, this chapter provides an updated picture of emerging knowledge outlined by the more comprehensive genetic approaches, trying to outline more candidate genes for these forms of genetic obesity. Relevant papers will be identified through systematic searches of the PubMed, EMBASE and Cochrane databases. All published studies in the English language concerning these disorders will be evaluated. Keywords in the

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DELETION 1p36 SYNDROME

Battaglia¹

2020

Cassidy and Allanson's Management of Genetic Syndromes

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Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Cited by 47 publications

References 48 publications

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

DELETION 1p36 SYNDROME

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