Novel gross deletion at the LHX4 gene locus in a child with growth hormone deficiency

IF 1.6 4区 医学 Q4 CELL BIOLOGY Growth Hormone & Igf Research Pub Date : 2022-02-01 DOI:10.1016/j.ghir.2021.101443
Saumya Madushani Samarasinghe , Tharmini Sundralingam , Asanka Sudeshini Hewage , K.S.H. de Silva , Kamani Hemamala Tennekoon
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Abstract

Objective

To identify and characterize a novel deletion at the LHX4 gene locus in a proband with growth hormone deficiency (GHD).

Methods

Long range polymerase chain reaction (PCR) amplification was used to confirm the suspected deletion and to identify the rough locations of the end points. Sanger sequencing was carried out to identify the exact end points of the deletion.

Results

Suspected deletion was confirmed via long range PCR amplification. Sanger sequencing identified the end points of the deletion within three nucleotide repeat sequences (“CTT”). The total length of the deleted segment was 12 127 base pairs and it includes complete exon 5 and exon 6 of the LHX4 gene. Therefore the homeodomain motif coded by exons 4 and 5, might be affected.

Conclusion

We have identified a novel deletion that spans exon 5 and exon 6 of the LHX4 gene that could have occurred via microhomology mediated non-recurrent rearrangement. The deletion characterized does not appear to have been reported before. To our knowledge this novel deletion is the first identified LHX4 variant from Sri Lanka and it explains the phenotype of the proband characterized by growth hormone deficiency, hypoplastic anterior pituitary and subsequent deficiency of thyroid stimulating hormone and adrenocorticotropic hormone (ACTH).

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生长激素缺乏症儿童LHX4基因位点的新缺失
目的鉴定生长激素缺乏症(GHD)先证者LHX4基因缺失的新特征。方法采用远程聚合酶链反应(PCR)扩增技术对疑似缺失的基因进行确证,并确定基因末端的大致位置。进行Sanger测序以确定缺失的确切终点。结果通过长距离PCR扩增证实了怀疑缺失。Sanger测序在三个核苷酸重复序列(“CTT”)内确定了缺失的终点。缺失片段全长12 127个碱基对,包含LHX4基因完整的外显子5和外显子6。因此,由外显子4和5编码的同源结构域基序可能受到影响。结论我们发现了LHX4基因外显子5和外显子6的一个新的缺失,可能是通过微同源介导的非复发性重排发生的。这种缺失特征似乎以前没有报道过。据我们所知,这一新的缺失是斯里兰卡首次发现的LHX4变异,它解释了先证者以生长激素缺乏、垂体前叶发育不全以及随后的促甲状腺激素和促肾上腺皮质激素(ACTH)缺乏为特征的表型。
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来源期刊
Growth Hormone & Igf Research
Growth Hormone & Igf Research 医学-内分泌学与代谢
CiteScore
3.30
自引率
0.00%
发文量
38
审稿时长
57 days
期刊介绍: Growth Hormone & IGF Research is a forum for research on the regulation of growth and metabolism in humans, animals, tissues and cells. It publishes articles on all aspects of growth-promoting and growth-inhibiting hormones and factors, with particular emphasis on insulin-like growth factors (IGFs) and growth hormone. This reflects the increasing importance of growth hormone and IGFs in clinical medicine and in the treatment of diseases.
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