New oral findings in Cohen syndrome

Garcia-Ballesta, Carlos; Perez-Lajarin, Leonor; Lillo, Olga Cortés; González, Luis Alberto Bravo

doi:10.1067/moe.2003.138

Cited by 8 publications

(3 citation statements)

References 9 publications

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“…Neutropenia is characterized as a neutrophil count of <1.5 × 10 9 /L in children and <1.8 × 10 9 /L in adults [16]. The facial gestalt includes down-slanting palpebral fissures, wave-shaped eyelids, thick eyebrows and eyelashes, low hairline, prominent and beak-shaped nose, malar hypoplasia, short philtrum, high-arched palate, maxillary prognathia and prominent central incisors [17–19]. Patients with CS grimace when they are asked to smile [12, 20].…”

Section: Case Presentationmentioning

confidence: 99%

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

et al. 2016

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BackgroundThe recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk.Case presentationIn this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability in a family with a boy presenting with NDD who inherited the dup16p11.2 from his apparently healthy mother. We identified novel splicing variants of VPS13B (8q22.2) in the proband with compound heterozygous inheritance. Two VPS13B mutations abolished the canonical splice sites resulting in low RNA expression in transformed lymphoblasts of the proband. VPS13B mutation causes Cohen syndrome (CS) consistent with the proband’s phenotype (intellectual disability (ID), microcephaly, facial gestalt, retinal dystrophy, joint hypermobility and neutropenia).The new diagnosis of CS has important health implication for the proband, provides the opportunity for more meaningful and accurate genetic counselling for the family; and underscores the importance of longitudinally following patients for evolving phenotypic features.ConclusionsThis is the first report of a co-occurrence of pathogenic variants with familial dup16p11.2. Our finding suggests that the variable expressivity among carriers of rare putatively pathogenic CNVs such as dup16p11.2 warrants further study by WES and individualized genetic counselling of families with such CNVs.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-016-0340-0) contains supplementary material, which is available to authorized users.

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Section: Case Presentationmentioning

confidence: 99%

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

et al. 2016

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“…Conversely, oral condition in CS remains inadequately investigated 5–7 and could be impacted by patient dependence on external help. A difficulty lies in the possibility of non‐cooperation of CS patient during oral examination.…”

Section: Introductionmentioning

confidence: 99%

Periodontal disorders in a cohort of patients with Cohen syndrome

Lafon

Faivre

Seux

et al. 2020

Special Care in Dentistry

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AimsCohen syndrome (CS) is an uncommon autosomal recessive disorder due to mutations in vacuolar protein sorting 13B, with an intermittent presence of neutropenia. Contrary to other clinical phenotypic features, oral health has been little investigated in CS. We described oral health and dental hygiene in a cohort of CS patients.Methods and ResultsTwelve CS patients with neutropenia (<1500/mm3) were recruited in the dental department of Dijon University Hospital (France). Patients underwent oral examination, and blood samples were collected. Oral health markers were described and compared between patients with moderate and severe neutropenia (<500/mm3). In 12 patients (mean age = 21.1 years, SD = 13.7, six females), 45.5% brushed at least twice daily their teeth, and the same percentage annually visited a dentist. Dental plaque index was high (mean = 1.7, SD = 1.4). So was the number of lost teeth per patient, notably among adults (mean = 13.8, SD = 9.8). Elevated markers of periodontitis were noted as percentage of bleeding dental sites (mean = 70.2%, SD = 45.2%) or Gingival Index (mean = 2.2, SD = 1.0). The severity of neutropenia was correlated to the level of tooth‐loss (P = .03).ConclusionThis study highlighted in CS patients worrisome oral health and dental follow‐up in the context of intellectual disability with behavioural anomalies. More attention is needed by care‐givers on oral condition in CS.

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“…Other abnormalities may include obesity, muscle hypotonia and weakness, mental disability, strabismus, narrow hands and feet with mild shortening of metacarpals and metatarsals, lumbar lordosis, and delayed puberty 5,6 . Since Cohen syndrome was first described, nearly 100 cases have been reported, 7 and its prevalence has been estimated at 1:105,000 live births 8 …”

Section: Introductionmentioning

confidence: 99%

Enamel microabrasion in an individual with Cohen syndrome

Macedo¹,

Tomazela‐Herndl

Corrêa

et al. 2008

Special Care in Dentistry

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This case report describes the esthetic dental treatment of a patient with Cohen syndrome where microabrasion was used to treat dental fluorosis. The patient's teeth had white and light yellow spots, which were diagnosed as moderate dental fluorosis. These spots were treated with microabrasion using pumice paste and 37% phosphoric acid. The paste was applied with a rubber cup on a low-speed handpiece and manually using a wooden stick. It took four appointments to treat all of the patient's teeth. Topical neutral fluoride was applied after each appointment to decrease any dental sensitivity. The esthetic result was satisfactory. Esthetic dental treatment may result in positive emotional and behavioral changes in patients with special needs.

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New oral findings in Cohen syndrome

Cited by 8 publications

References 9 publications

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

Periodontal disorders in a cohort of patients with Cohen syndrome

Enamel microabrasion in an individual with Cohen syndrome

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