Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

Lin, Shaobin; Zhou, You; Fang, Qun; Wu, Junrong; Zhang, Zhiqiang; Ji, Yuanjun; Luo, Yang

doi:10.3892/mmr.2016.5864

Cited by 19 publications

(17 citation statements)

References 17 publications

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“…Although tethered cord has not previously been linked to the terminal region of chromosome 10q deleted in our patient, she displayed many phenotypic features previously associated with this segment, including facial abnormalities, growth and psychomotor delay, and digital anomalies [38]. Deletions of 10q26 have been reported in less than 30 prior cases; this segment contains multiple genes and regions critical for a variety of developmental processes [39] but has not previously been associated with PRS or tethered cord. It remains unclear which specific gene(s) in this region or deleted in our patient's case (listed in Supplementary Table 1) may be responsible for either condition.…”

Section: Discussionmentioning

confidence: 55%

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

et al. 2020

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Introduction The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS. Methods We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion. Results Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical detethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS. Conclusion Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management.

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Section: Discussionmentioning

confidence: 55%

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

et al. 2020

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“…This might result from the fact that the cohort in this study consisted of patients referred to a neurology clinic at a tertiary center. Even those who had CNVs overlapping with well-known pathogenic CNVs or syndromes did not always show typical features [ 22 23 24 25 26 27 28 29 30 ]. This could result partly from the different breakpoints among the patients, a combination of other genomic imbalances, or other individual genetic factors.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability

Lee

Kim

et al. 2018

Ann Lab Med

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BackgroundChromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability. In some countries, including Korea, CMA testing is not yet implemented in clinical practice. We assessed the diagnostic utility of CMA testing in a large cohort of patients with developmental delay or intellectual disability in Korea.MethodsWe conducted a genome-wide microarray analysis of 649 consecutive patients with developmental delay or intellectual disability at the Seoul National University Children's Hospital. Medical records were reviewed retrospectively. Pathogenicity of detected copy number variations (CNVs) was evaluated by referencing previous reports or parental testing using FISH or quantitative PCR.ResultsWe found 110 patients to have pathogenic CNVs, which included 100 deletions and 31 duplications of 270 kb to 30 Mb. The diagnostic yield was 16.9%, demonstrating the diagnostic utility of CMA testing in clinic. Parental testing was performed in 66 patients, 86.4% of which carried de novo CNVs. In eight patients, pathogenic CNVs were inherited from healthy parents with a balanced translocation, and genetic counseling was provided to these families. We verified five rarely reported deletions on 2p21p16.3, 3p21.31, 10p11.22, 14q24.2, and 21q22.13.ConclusionsThis study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability.

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“…CALY is associated with ADHD 33 , and 30-60% of tuberous sclerosis patients suffer from ADHD 34 . Additionally, calcyon haploinsufficiency has been proposed to be at least a partial cause of behavioral phenotypes identified in 10q26 deletion syndrome, as CALY is located at 10q26 35,36 . This suggests a role of insufficient or aberrant calcyon-mediated vesicle trafficking 37 in TSC-associated ADHD.…”

Section: Growing Organoids From Many Donors Reveals Reproducible Phenmentioning

confidence: 99%

Optimization and scaling of patient-derived brain organoids uncovers deep phenotypes of disease

Shah

Bedi

Rogozhnikov

et al. 2020

Preprint

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Cerebral organoids provide unparalleled access to human brain development in vitro. However, variability induced by current culture methodologies precludes using organoids as robust disease models. To address this, we developed an automated Organoid Culture and Assay (ORCA) system to support longitudinal unbiased phenotyping of organoids at scale across multiple patient lines. We then characterized organoid variability using novel machine learning methods and found that the contribution of donor, clone, and batch is significant and remarkably consistent over gene expression, morphology, and cell-type composition. Next, we performed multi-factorial protocol optimization, producing a directed forebrain protocol compatible with 96-well culture that exhibits low variability while preserving tissue complexity. Finally, we used ORCA to study tuberous sclerosis, a disease with known genetics but poorly representative animal models. For the first time, we report highly reproducible early morphological and molecular signatures of disease in heterozygous TSC+/− forebrain organoids, demonstrating the benefit of a scaled organoid system for phenotype discovery in human disease models.

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Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

Cited by 19 publications

References 17 publications

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability

Optimization and scaling of patient-derived brain organoids uncovers deep phenotypes of disease

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