Genotype–phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects

Lee, Seungok; Chae, Hyojin; Park, In Yang; Kim, Myungshin; Kim, Yonggoo; Shin, Jong Chul; Lee, Juyoung; Son, Jungok

doi:10.1016/j.gene.2011.11.063

Cited by 6 publications

(7 citation statements)

References 10 publications

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“…2 B). While the common clinical phenotype for patients with deletions in the long arm of chromosome 5 covers a wide array of features such as developmental delay, failure to thrive, psychomotor retardation, flat nasal bridge, and others [Lee et al, 2012], the phenotype presented by our patient is represented almost exclusively by the heterozygous deletion of the APC gene and the consequent FAP diagnosis.…”

Section: Discussionmentioning

confidence: 90%

“…Existing reports have aimed to compare and contrast deletions between different patient cases; however, the pathological implications of those deletions have not been investigated in detail beyond the initial clinical diagnosis [Lee et al, 2012;Yamaguchi et al, 2014]. The size of the 5q interstitial deleted region varies greatly among patients, ranging from 1.7 Mbp [Yamaguchi et al, 2014] to 20 Mbp [Casper et al, 2014] and larger, with the majority of the cases presenting with various degrees of learning disability, failure to thrive, and minor to major dysmorphic signs [Rivera et al, 1990;Pilarski et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

“…These symptoms are not confined to a single chromosomal band ( Fig. 2 B), which has prevented the classification of 5q deletion subtypes, although several attempts have been made [Rivera et al, 1990;Lindgren et al, 1992;Lee et al, 2012]. Notable findings from these studies show a lack of a genotype-phenotype correlation in cases that share an affected region as well as no association between the size of the deletion and the severity of the phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…Because of the timing of this discovery, all the clinical cases of 5q deletions up to that moment did not examine the manifestation of FAP in the patient, and therefore do not contribute any information about the link between 5q22 deletions and FAP. Patients with chromosomal deletions that include APC are most often diagnosed when their dysmorphic features are revealed in infancy or when they fail to thrive and show other signs of delayed development [Lee et al, 2012;Yamaguchi et al, 2014]; those that remain asymptomatic usually experience gastrointestinal manifestations such as weight loss, rectorhaggia and bowel obstruction.…”

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confidence: 99%

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Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

et al. 2018

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Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and the subsequent array CGH identified an approximately 8-Mb-sized deletion in the 5q22.2q23.1 locus. Further analysis of the deleted region and the genes within suggested a possible role for the TSSK1B (testis-specific serine/threonine kinase 1) gene in the patient's reproductive capacity. Semen analysis confirmed that the patient's reproductive capability was impaired, and that he suffered from asthenoteratozoospermia. Analysis of the azoospermia factor region on the Y chromosome revealed no microdeletions. Further sequencing tests could not find an alternative explanation for the patient's infertility. This case demonstrates a possible role of TSSK1B in male reproduction.

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Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

et al. 2018

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“…A small number of 5q deletion cases was reported in association with mental retardation and facial dysmorphism, like in our case. Lee et al7) documented patients carrying the 5q22.3 deletion. These cases included clinical features of brachycephaly, a high forehead, hypertelorism with prominent eyes, low-set ears, clenched hands, clubfeet, prominent coccyx with hair, ambiguous genitalia, inguinal hernia, cardiac defect, and severe failure to thrive.…”

Section: Discussionmentioning

confidence: 99%

Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

et al. 2016

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Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

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Autistic and Rett‐like features associated with 2q33.3–q34 interstitial deletion

Jang

Chae

Kim

2015

American J of Med Genetics Pt A

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We describe the fourth reported case of a de novo 2q33.3-q34 interstitial deletion and review the literature in attempt to identify relevant candidate genes. A 15-month-old female patient presented for evaluation with poor eye contact and developmental delay. She had microcephaly and mild dysmorphic features, such as downslanting palpebral fissures, high forehead, small mouth, high palate, and general hypotonia. At 30 months of age, she was referred to the genetic clinic for an evaluation of persistent developmental delay, autistic traits, and Rett-like features, including bruxism and repetitive movement of the left hand. Chromosome analysis revealed 46,XX at the 550 band level. No abnormalities were found on analysis of MECP2 gene for Rett syndrome and a DNA methylation test for Prader-Willi syndrome. An array comparative genomic hybridization analysis revealed a de novo 2q33.3-q34 heterozygous deletion (206,048,173-211,980,867). The deletion was estimated to be 5.9 Mb in size and contained 34 known genes. Candidate genes were identified as NRP2, ADAM23, KLF7, CREB1, MAP2, UNC80, and LANCL1 for the 2q33.3-q34 interstitial deletion.

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Genotype–phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects

Cited by 6 publications

References 10 publications

Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia

Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

Autistic and Rett‐like features associated with 2q33.3–q34 interstitial deletion

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