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三位无关联患者 9p24.3 重复，并对其表型进行考虑，考虑受影响的基因和类似的复发变异。

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants.

机构信息

Department of Medical Genetics, University Hospital Olomouc, Olomouc, Czech Republic.

Department of Medical Genetics, Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czech Republic.

出版信息

Mol Genet Genomic Med. 2021 Mar;9(3):e1592. doi: 10.1002/mgg3.1592. Epub 2021 Jan 17.

DOI:10.1002/mgg3.1592
PMID:33455084
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8104183/
Abstract

BACKGROUND

Recent studies suggest that duplication of the 9p24.3 chromosomal locus, which includes the DOCK8 and KANK1 genes, is associated with autism spectrum disorders (ASD), intellectual disability/developmental delay (ID/DD), learning problems, language disorders, hyperactivity, and epilepsy. Correlation between this duplication and the carrier phenotype needs further discussion.

METHODS

In this study, three unrelated patients with ID/DD and ASD underwent SNP aCGH and MLPA testing. Similarities in the phenotypes of patients with 9p24.3, 15q11.2, and 16p11.2 duplications were also observed.

RESULTS

All patients with ID/DD and ASD carried the 9p24.3 duplication and showed intragenic duplication of DOCK8. Additionally, two patients had ADHD, one was hearing impaired and obese, and one had macrocephaly. Inheritance of the 9p24.3 duplication was confirmed in one patient and his sibling. In one patient KANK1 was duplicated along with DOCK8. Carriers of 9p24.3, 15q11.2, and 16p11.2 duplications showed several phenotypic similarities, with ID/DD more strongly associated with duplication of 9p24.3 than of 15q11.2 and 16p11.2.

CONCLUSION

We concluded that 9p24.3 is a likely cause of ASD and ID/DD, especially in cases of DOCK8 intragenic duplication. DOCK8 is a likely causative gene, and KANK1 aberrations a modulator, of the clinical phenotype observed. Other modulators were not excluded.

摘要

背景

最近的研究表明，9p24.3 染色体基因座的重复，包括 DOCK8 和 KANK1 基因，与自闭症谱系障碍（ASD）、智力残疾/发育迟缓（ID/DD）、学习问题、语言障碍、多动和癫痫有关。这种重复与携带者表型之间的相关性需要进一步讨论。

方法

在这项研究中，三个患有 ID/DD 和 ASD 的无关患者接受了 SNP aCGH 和 MLPA 检测。还观察到患有 9p24.3、15q11.2 和 16p11.2 重复的患者表型的相似性。

结果

所有患有 ID/DD 和 ASD 的患者均携带 9p24.3 重复，并显示 DOCK8 基因内重复。此外，两名患者患有 ADHD，一名患者听力受损和肥胖，一名患者头围过大。一名患者及其兄弟姐妹的 9p24.3 重复遗传得到证实。在一名患者中，KANK1 与 DOCK8 一起重复。9p24.3、15q11.2 和 16p11.2 重复的携带者表现出多种表型相似性，与 15q11.2 和 16p11.2 重复相比，9p24.3 重复与 ID/DD 的相关性更强。

结论

我们得出结论，9p24.3 可能是 ASD 和 ID/DD 的原因，尤其是在 DOCK8 基因内重复的情况下。DOCK8 是观察到的临床表型的可能致病基因，而 KANK1 异常是其调节剂。不排除其他调节剂。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/a2ef37fcb651/MGG3-9-e1592-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/6e233f77d5b7/MGG3-9-e1592-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/b4e80580c402/MGG3-9-e1592-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/8ceb9932978a/MGG3-9-e1592-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/bd4743b60f71/MGG3-9-e1592-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/1ca37bc4e253/MGG3-9-e1592-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/a2ef37fcb651/MGG3-9-e1592-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/6e233f77d5b7/MGG3-9-e1592-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/b4e80580c402/MGG3-9-e1592-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/8ceb9932978a/MGG3-9-e1592-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/bd4743b60f71/MGG3-9-e1592-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/1ca37bc4e253/MGG3-9-e1592-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0196/8104183/a2ef37fcb651/MGG3-9-e1592-g005.jpg

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