Dataset Information

A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity.

ABSTRACT: Background:Chiari malformation type II (CM-II) is mainly characterized by elongation and descent of the cerebellum through the foramen magnum into the spinal canal. Moreover, CM-II is uniquely associated with myelomeningocele. Sprengel's deformity refers to the malposition of the scapula, i.e. scapular elevation which is sometimes accompanied with scapula dysplasia. Although few familial cases of CM-II and Sprengel's deformity have been previously reported, both of these defects are considered to be sporadic, thus the exact etiology and causative genes have largely remained unknown. Case presentation:The patient was diagnosed with CM-II accompanied with Sprengel's deformity. Further genetic investigation revealed a novel 666 kb microdeletion located in 3q29 (chr3:194,532,035-195,198,585; Hg19). Subsequently, genes within the affected region were summarized, and XXYLT1 and ACAP2 were identified as the candidate genes. Conclusion:We reported a case of a patient with CM-II and Sprengel's deformity harboring a microdeletion in 3q29. This case highlights the importance of 3q29 in early neural and skeletal development, as well as expands the phenotype spectrum of this rare disorder.

SUBMITTER: Guo S

PROVIDER: S-EPMC5781338 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity.

Guo Shuai S Fan Xue-Feng XF Jin Jie-Yuan JY Fan Liang-Liang LL Zeng Lei L Zhou Zheng-Bing ZB Xiang Rong R Tang Ju-Yu JY

Molecular cytogenetics 20180124

<h4>Background</h4>Chiari malformation type II (CM-II) is mainly characterized by elongation and descent of the cerebellum through the foramen magnum into the spinal canal. Moreover, CM-II is uniquely associated with myelomeningocele. Sprengel's deformity refers to the malposition of the scapula, i.e. scapular elevation which is sometimes accompanied with scapula dysplasia. Although few familial cases of CM-II and Sprengel's deformity have been previously reported, both of these defects are cons ...[more]

PMID: 29410707

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Project description:Chromosome 16p11.2 deletions and duplications were found to be the second most common copy number variation (CNV) reported in cases with clinical presentation suggestive of chromosomal syndromes. Chromosome 16p11.2 deletion syndrome shows remarkable phenotypic heterogeneity with a wide variability of presentation extending from normal development and cognition to severe phenotypes. The clinical spectrum ranges from neurocognitive and global developmental delay (GDD), intellectual disability, and language defects (dysarthria /apraxia) to neuropsychiatric and autism spectrum disorders. Other presentations include dysmorphic features, congenital malformations, insulin resistance, and a tendency for obesity. Our study aims to narrow the gap of knowledge in Saudi Arabia and the Middle Eastern and Northern African (MENA) region about genetic disorders, particularly CNV-associated disorders. Despite their rarity, genetic studies in the MENA region revealed high potential with remarkable genetic and phenotypic novelty. We identified a heterozygous de novo recurrent proximal chromosome 16p11.2 microdeletion by microarray (arr[GRCh38]16p11.2(29555974_30166595)x1) [(arr[GRCh37]16p11.2(29567295_30177916)x1)] and confirmed by whole exome sequencing (arr[GRCh37]16p11.2(29635211_30199850)x1). We report a Saudi girl with severe motor and cognitive disability, myoclonic epilepsy, deafness, and visual impairment carrying the above-described deletion. Our study broadens the known phenotypic spectrum associated with recurrent proximal 16p11.2 microdeletion syndrome to include developmental dysplasia of the hip, optic atrophy, and a flat retina. Notably, the patient exhibited a rare combination of microcephaly, features consistent with the Dandy-Walker spectrum, and a thin corpus callosum (TCC), which are extremely infrequent presentations in patients with the 16p11.2 microdeletion. Additionally, the patient displayed areas of skin and hair hypopigmentation, attributed to a homozygous hypomorphic allele in the TYR gene. This report expands on the clinical phenotype associated with proximal 16p11.2 microdeletion syndrome, highlighting the potential of genetic research in Saudi Arabia and the MENA region. It underscores the importance of similar future studies.

Project description:BackgroundPseudomeningoceles (PMCs) as abnormal collections of cerebrospinal fluid are quite common findings on follow-up MRI after Chiari decompression surgery (CDS). However, the importance of their identification has not been truly determined, especially when PMCs are described occasionally in the process of radiological follow-up. We retrospectively analyzed surgical outcomes and imaging findings after CDS depending upon the occurrence and thickness of PMCs.MethodsA total of 76 adult patients who underwent CDS were analyzed. The clinical and radiological outcomes of patients with a pseudomeningocele (wPMC) were evaluated and compared to those of patients without a pseudomeningocele (w/oPMC). Radiological morphometric measurements were performed and compared between groups. Comparisons of the maximal PMC thickness were made within the wPMC group.ResultsPMCs were recognized in 27 (35.5%) patients, of whom 3 (11.1%) required reoperation. Differences in satisfactory result rates regarding gestalt assessment and Chicago Chiari Outcome Scale were statistically insignificant between the w/oPMC and wPMC groups (p = 1 and p = 0.56, respectively). The postoperative syringomyelia decrease and cerebellar tonsil elevation were similar between the groups (p = 1 and p = 0.74, respectively) in the long-term follow-up. Additionally, the clinical or radiological outcomes with radiological details were not related to PMC thickness in the long-term follow-up. However, radiological details showed the cooccurrence of PMCs with a postsurgical of cerebello-tentorial distance increase (p < 0.05), basion-pontomedullary sulcus distance decrease (p < 0.05) and tonsillo-graft distance decrease (p < 0.05).ConclusionsWe found no significant relationships between PMC presence or thickness and clinical or radiological outcomes. However, postoperative changes within the posterior fossa associated with PMCs resemble brain sagging, which occurs in intracranial hypotension. Therefore, extradural cerebrospinal fluid escape may also be responsible for symptoms in some patients with PMCs after CDS.

Dataset Information

A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity.

Publications

A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity.

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