Gene analysis: A rare gene disease of intellectual deficiency‐Cohen syndrome

Yang, Chengqing; Hou, Mei; Li, Yutang; Sun, Dongfa; Guo, Ya Long; Li, Peipei; Liu, Yedan; Song, Jie; Zhang, Na; Wei, Wei; Chen, Zongbo

doi:10.1016/j.ijdevneu.2018.05.004

Cited by 15 publications

(12 citation statements)

References 19 publications

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“…Founder mutations have been described in several areas [2]. Only a few VPS13B mutations have been reported sporadically in patients with CS (two definitive CS and three probable CS) in the Chinese population [8–10]. In the present study, exome sequencing identified two novel VPS13B mutations in a Chinese family with two offspring–patients affected by CS and hyperlinear palms.…”

Section: Introductionmentioning

confidence: 52%

“…Hyperlinear palms have been reported among FLG -mutated patients [14] with atopic dermatitis or ichthyosis vulgaris [15]. We tried contacting VPS13B -mutated Chinese patients [8–10] to see if they have hyperlinear palms as a means of verifying if hyperlinear palms are a component phenotype of CS. However, we have not received any response from these patients.…”

Section: Discussionmentioning

confidence: 99%

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Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

et al. 2019

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Background: Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation: A Chinese family with two offspring-patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. Conclusions: This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

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Section: Introductionmentioning

confidence: 52%

Section: Discussionmentioning

confidence: 99%

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

et al. 2019

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“…In fact, a pattern of agalactosylated and asialo‐fucosylated structures, indicative of a N‐glycan maturation defect, was found in serum proteins of these patients . Intermittent congenital neutropenia is a hallmark of this disease (detected in 168/224 VPS13B‐CDG patients) . One patient had leukopenia without neutropenia while another had pancytopenia .…”

Section: The Immunological Impact Of Glycosylation Defects—an Update mentioning

confidence: 94%

CDG and immune response: From bedside to bench and back

Pascoal

Francisco

Ferro

et al. 2019

J of Inher Metab Disea

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Glycosylation is an essential biological process that adds structural and functional diversity to cells and molecules, participating in physiological processes such as immunity. The immune response is driven and modulated by protein‐attached glycans that mediate cell‐cell interactions, pathogen recognition and cell activation. Therefore, abnormal glycosylation can be associated with deranged immune responses. Within human diseases presenting immunological defects are congenital disorders of glycosylation (CDG), a family of around 130 rare and complex genetic diseases. In this review, we have identified 23 CDG with immunological involvement, characterized by an increased propensity to—often life‐threatening—infection. Inflammatory and autoimmune complications were found in 7 CDG types. CDG natural history(ies) and the mechanisms behind the immunological anomalies are still poorly understood. However, in some cases, alterations in pathogen recognition and intracellular signaling (eg, TGF‐β1, NFAT, and NF‐κB) have been suggested. Targeted therapies to restore immune defects are only available for PGM3‐CDG and SLC35C1‐CDG. Fostering research on glycoimmunology may elucidate the involved pathophysiological mechanisms and open new therapeutic avenues, thus improving CDG patients' quality of life.

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“…Here, we reviewed all the patients with CS con rmed by gene examinations in China (Table 1) and analyzed the gene variant sites and clinical features. It was found that 5 of 12 patients (including current case) carried c.6940+1G>T variant of VPS13B gene [20][21][22]. Only this patient was homozygous, and the other 4 cases were heterozygous variation.…”

Section: Discussionmentioning

confidence: 99%

“…It is obvious that the variant frequency of East Asian population is higher than other populations, and there is little reports about this variation in other populations [23][24][25][26][27][28]. The c.6940+1G>T variation was rst discovered by Chinese doctor in 2016, and has been reported four times in China in recent years [20][21][22]. This patient is the fth case but the rst homozygous variation patient in China.…”

Section: Discussionmentioning

confidence: 99%

Co-existence of Cohen Syndrome and Pendred Syndrome? Diagnostic Challenges Associated With Presence of Multiple Genomic Variants in the Newborn: A Case Report

Sun

et al. 2020

Preprint

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BackgroundCohen syndrome is a multisystem autosomal recessive hereditary disease, which is caused by variants of the VPS13B gene. The clinical manifestations include characteristic facial features, microcephaly, trunk obesity and mental retardation. The SLC26A4 gene encodes an anion transporter called Pendrin, the variants of SLC26A4 lead to deafness, Pendred syndrome and enlarged vestibular aqueduct. We presence a case of multiple genetic homozygous variants of SLC26A4 and VPS13B.Case presentationIn this study, we described a case of a 65-day-old female infant presenting with hearing loss and poor feeding. The deafness gene screening before admission showed that the patient carried homozygous c.919-2A>G variation of SLC26A4 gene. The symptoms of the patient did not improve significantly after a period of targeted treatment, then the possibility of genetic diseases was considered after consultation with the different departments. Whole exome sequencing was performed, and homozygous splicing variants in intron 38 (c.6940+1G>T) of VPS13B and that in intron 7 (c.919-2A>G) of SLC26A4 were identified. Later, the parent was proved as the carriers of VPS13B and SLC26A4 heterozygous variations by Sanger sequencing.ConclusionsPresence of multiple genetic homozygous variants of SLC26A4 and VPS13B, it is difficult to make an early diagnosis due to early atypical symptoms. Final diagnosis depends on whole exome sequencing which plays an important role in early diagnosis of intractable neonatal cases.

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Gene analysis: A rare gene disease of intellectual deficiency‐Cohen syndrome

Cited by 15 publications

References 19 publications

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

CDG and immune response: From bedside to bench and back

Co-existence of Cohen Syndrome and Pendred Syndrome? Diagnostic Challenges Associated With Presence of Multiple Genomic Variants in the Newborn: A Case Report

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