The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Leroy, Camille; Landais, Emilie; Briault, Sylvain; David, Albert; Tassy, Olivier; Gruchy, Nicolas; Delobel, Bruno; Gregoire, Marie‐José; Leheup, Bruno; Taine, Laurence; Lacombe, Didier; Delrue, Marie‐Ange; Toutain, Annick; Paubel, Agathe; Mugneret, Francine; Thauvin‐Robinet, Christel; Arpin, Stéphanie; Caignec, Cédric Le; Jonveaux, Philippe; Béri, Mylène; Leporrier, Nathalie; Motté, Jacques; Fiquet, Caroline; Brichet, Olivier; Mozelle-Nivoix, Monique; Sabouraud, Pascal; Golovkine, Nathalie; Bednarek, Nathalie; Gaillard, Dominique; Doco‐Fenzy, Martine

doi:10.1038/ejhg.2012.230

Cited by 83 publications

(92 citation statements)

References 35 publications

(54 reference statements)

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“…In contrast to this observation, we identified approximately identical breakpoints in 2 AHO-like-syndrome patients. The same breakpoint furthermore had already been reported in at least 1 further AHO-like patient [Leroy et al, 2013], hinting to a distinct chromosomal region in 2q37 that is structurally prone to chromosomal breakage or deletion. Our observation of secondary FISH signals from the breakpoint-flanking or -spanning probes ( fig.…”

Section: Q373 Deletion Syndrome In Two Casessupporting

confidence: 73%

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2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3

Mehraein¹,

Pfob²,

Steinlein³

et al. 2015

Cytogenet Genome Res

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2q37.3 deletion syndrome belongs to the chromosomal 2q37 deletion spectrum which clinically resembles Albright hereditary osteodystrophy (AHO) syndrome. It is is mainly characterized by short stature, obesity, round face, brachydactyly type E, intellectual disability, behavioral problems, and variable intellectual deficits. Different from classical AHO syndrome, patients with 2q37 deletion syndrome lack renal parathyroid hormone resistance (pseudohypoparathyroidism) and soft tissue ossification. So far, deletion mapping or molecular breakpoint analyses of 2q37 have been performed in only few patients. Here, we report on 2 patients with 2q37.3 deletion syndrome. In both patients the breakpoint of the 5.5-Mb terminal microdeletion could be narrowed down to the same ∼200-kb interval on 2q37.3 by BAC-FISH and/or array-CGH. Flanking low-copy repeats may indicate a classical microdeletion syndrome genesis for the 2q37.3 microdeletion subgroup. Clinical evaluation revealed intellectual deficits and type E brachydactyly typical for classical AHO syndrome together with distinctive facial dysmorphisms not present in the former. Furthermore, one patient presented with schizophrenic psychosis, an observation that would be in accordance with previous reports about an association between schizophrenia susceptibility and an unknown gene within the chromosomal region 2q37.

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Section: Q373 Deletion Syndrome In Two Casessupporting

confidence: 73%

“…Based on our patients as well as reported individuals with similar chromosomal breakpoints [Leroy et al, We further included del(2)(q37.3) patient 7 from a previously published study [Leroy et al, 2013] showing a similar deletion breakpoint and the same set of deleted genes as the 2 patients presented here.…”

Section: Discussionmentioning

confidence: 99%

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3

Mehraein¹,

Pfob²,

Steinlein³

et al. 2015

Cytogenet Genome Res

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“…The intellectual disability could also be explained by haploinsufficiency of at least 4 genes (K1F1A, PASK, HDLBP, and FARP2) located in the 2q37.3 region [Felder et al, 2009;Hamdan et al, 2011;Leroy et al, 2013]. However, we must be cautious to conclude that 2q37.3 deletion is responsible for intellectual disorders in our patient since the 2q37.3 deletion may be present as polymorphism [Macina et al, 1994;Fan et al, 2001].…”

Section: Discussionmentioning

confidence: 82%

Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q

Rey¹,

Santos²,

González‐Meneses³

et al. 2016

Cytogenet Genome Res

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Complex chromosome rearrangements (CCRs) are unusual structural chromosome alterations found in humans, and to date only a few have been characterized molecularly. New mechanisms, such as chromothripsis, have been proposed to explain the presence of the CCRs in cancer cells and in patients with congenital disorders and/or mental retardation. The aim of the present study was the molecular characterization of a constitutional CCR in a girl with multiple congenital disorders and intellectual disability in order to determine the genotype-phenotype relation and to clarify whether the CCR could have been caused by chromosomal catastrophic events. The present CCR was characterized by G-banding, high-resolution CGH, multiplex ligation-dependent probe amplification and subtelomeric 2q-FISH analyses. Preliminary results indicate that the de novo CCR is unbalanced showing a 2q37.3 deletion and 2q34q37.2 partial trisomy. Our patient shows some of the typical traits and intellectual disability described in patients with 2q37 deletion and also in carriers of 2q34q37.2 partial trisomy; thus, the clinical disorders could be explained by additional effects of both chromosome alterations (deletions and duplications). A posterior, sequential FISH study using BAC probes revealed the unexpected presence of at least 17 different reorganizations affecting 2q34q37.2, suggesting the existence of chromosome instability in this region. The present CCR is the first case described in the literature of heterogeneity of unbalanced CCRs affecting a small region of 2q, indicating that the mechanisms involved in constitutional chromosome rearrangement may be more complex than previously thought.

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“…These abnormalities are found at higher frequencies among ASD patients, and ASD prevalence is also higher in patients with chromosomal abnormalities than in the general population [40]. Recent studies have reported ASD in 19 % of patients with Down syndrome [41] or with sex chromosome aneuploidies [42], and even more common in segmental aneuploidies (microdeletion or microduplication) of chromosomes 2q37 [43], 15q11-13 [44], and 16p11.2 [45].…”

Section: Chromosomal Aberrationsmentioning

confidence: 97%

Advances in Genetic Diagnosis of Autism Spectrum Disorders

Shen

Miller

2014

Curr Pediatr Rep

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Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental abnormalities characterized by stereotypical communicative and social impairments, affecting 1 in 88 children in the United States. Both genetic and environmental factors contribute to the etiology of ASD. Autistic traits may be part of features associated with certain syndromes or the sole clinical presentation. Due to extreme heterogeneity and variable expressivity of the condition, clinical diagnosis and management have been challenging. Major advances in genomic technologies, computing power, and bioinformatics analyses have resulted in the accelerated discovery of novel genes and risk loci associated with both inherited and sporadic forms of ASD. Pathogenic genetic defects related to ASD range from single nucleotide variation to gross chromosomal abnormalities. In this review, we first summarize the current understanding of the genetic etiology of ASD; we then discuss how genetic diagnostics may influence the management and genetic counseling of ASD; and finally, we outline the strategy to integrate genetic tests into clinical care of children with ASD. We hope to inform primary care pediatricians and clinical genetic specialists how recent advances in the genetic research of ASD have been translated into clinical genetic testing for patients.

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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Cited by 83 publications

References 35 publications

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3

Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q

Advances in Genetic Diagnosis of Autism Spectrum Disorders

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