Multiple copy number variation in a patient with Kleefstra syndrome
ABSTRACT Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. Case description: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular...
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| Format: | Article |
| Language: | English |
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Sociedade de Pediatria de São Paulo
2023-09-01
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| Series: | Revista Paulista de Pediatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822024000100603&tlng=en |
| _version_ | 1797681816695472128 |
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| author | Thomas Nohama Lee Henrique El Laden Rechetello João Batista De Arêa Lima Júnior João Pedro Fagoti Ferraz Cornelio Naiara Bozza Pegoraro Salmo Raskin Liya Regina Mikami |
| author_facet | Thomas Nohama Lee Henrique El Laden Rechetello João Batista De Arêa Lima Júnior João Pedro Fagoti Ferraz Cornelio Naiara Bozza Pegoraro Salmo Raskin Liya Regina Mikami |
| author_sort | Thomas Nohama Lee |
| collection | DOAJ |
| description | ABSTRACT Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. Case description: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar crease and arachnoid cyst. The microarray-based comparative genomic hybridization (a-CGH) identified copy number variations (CNVs) in five regions: 9q34.3, 6p22.1, Yq11.223, Yp11.23, and 2q24.1. The heterozygous microdeletion in 9q34.3 involving the EHMT1 gene confirms the diagnosis of KS. Comments: The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, single palmar fold and ligament laxity), compared to other individuals with only KS genetic alteration, making the dignosis of the disease harder. |
| first_indexed | 2024-03-11T23:50:30Z |
| format | Article |
| id | doaj.art-bc51b3b8149745cea0f53639468c9976 |
| institution | Directory Open Access Journal |
| issn | 1984-0462 |
| language | English |
| last_indexed | 2024-03-11T23:50:30Z |
| publishDate | 2023-09-01 |
| publisher | Sociedade de Pediatria de São Paulo |
| record_format | Article |
| series | Revista Paulista de Pediatria |
| spelling | doaj.art-bc51b3b8149745cea0f53639468c99762023-09-19T07:40:02ZengSociedade de Pediatria de São PauloRevista Paulista de Pediatria1984-04622023-09-014210.1590/1984-0462/2024/42/2022230Multiple copy number variation in a patient with Kleefstra syndromeThomas Nohama Leehttps://orcid.org/0000-0003-0114-4957Henrique El Laden Rechetellohttps://orcid.org/0000-0001-7395-6191João Batista De Arêa Lima Júniorhttps://orcid.org/0000-0001-5783-2877João Pedro Fagoti Ferraz Corneliohttps://orcid.org/0000-0002-5209-6150Naiara Bozza Pegorarohttps://orcid.org/0000-0003-0941-2194Salmo Raskinhttps://orcid.org/0000-0002-7191-0592Liya Regina Mikamihttps://orcid.org/0000-0003-1234-7549ABSTRACT Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. Case description: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar crease and arachnoid cyst. The microarray-based comparative genomic hybridization (a-CGH) identified copy number variations (CNVs) in five regions: 9q34.3, 6p22.1, Yq11.223, Yp11.23, and 2q24.1. The heterozygous microdeletion in 9q34.3 involving the EHMT1 gene confirms the diagnosis of KS. Comments: The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, single palmar fold and ligament laxity), compared to other individuals with only KS genetic alteration, making the dignosis of the disease harder.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822024000100603&tlng=enNeurodevelopmental disordersGeneticsGenes |
| spellingShingle | Thomas Nohama Lee Henrique El Laden Rechetello João Batista De Arêa Lima Júnior João Pedro Fagoti Ferraz Cornelio Naiara Bozza Pegoraro Salmo Raskin Liya Regina Mikami Multiple copy number variation in a patient with Kleefstra syndrome Revista Paulista de Pediatria Neurodevelopmental disorders Genetics Genes |
| title | Multiple copy number variation in a patient with Kleefstra syndrome |
| title_full | Multiple copy number variation in a patient with Kleefstra syndrome |
| title_fullStr | Multiple copy number variation in a patient with Kleefstra syndrome |
| title_full_unstemmed | Multiple copy number variation in a patient with Kleefstra syndrome |
| title_short | Multiple copy number variation in a patient with Kleefstra syndrome |
| title_sort | multiple copy number variation in a patient with kleefstra syndrome |
| topic | Neurodevelopmental disorders Genetics Genes |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822024000100603&tlng=en |
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