Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 9928271...

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Veröffentlicht in:Human genome variation 2022-05, Vol.9 (1), p.14-14, Article 14
Hauptverfasser: Okazaki, Tetsuya, Kawaguchi, Tatsuya, Saiki, Yusuke, Aoki, Chisako, Kasagi, Noriko, Adachi, Kaori, Saida, Ken, Matsumoto, Naomichi, Nanba, Eiji, Maegaki, Yoshihiro
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Sprache:eng
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692/699/375/366
692/699/375/366/1373
Age
Biomedical and Life Sciences
Biomedicine
Birth defects
Data Report
Gene deletion
Gene Expression
Gene Function
Gene Therapy
Genes
Genomes
Genotype & phenotype
Hospitals
Human Genetics
Intellectual disabilities
Medicine
Molecular Medicine
Mouth
Obesity
Patients
Strabismus
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Zusammenfassung:There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 99282717–100062596) (hg19). The following genes were included in this region: POU3F2, FBXL4, FAXC, COQ3, PNISR, USP45, TSTD3, CCNC , and PRDM13 .
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-022-00194-w