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TECPR2相关遗传性感觉自主神经病变与坦普尔综合征的混合表型。

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

作者信息

Zubair Umar, Yang Kathryn, Schierbaum Luca, Tam Amy, Battaglia Nicole, Rong Joshua, Quiroz Vicente, Ebrahimi-Fakhari Darius

机构信息

Department of Neurology, Movement Disorders Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Ann Clin Transl Neurol. 2025 Feb;12(2):448-451. doi: 10.1002/acn3.52293. Epub 2025 Jan 14.

DOI:10.1002/acn3.52293
PMID:39807687
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11822794/
Abstract

Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.1319del, p.Leu440Argfs*19]. This case illustrates challenges associated with a mixed phenotype of ultra-rare disorders and underscores the importance of investigating recessive conditions in homozygosity regions when atypical clinical features occur in patients with well-characterized imprinting disorders.

摘要

单亲二体性（UPiD）可导致印记障碍和常染色体隐性疾病的混合表型。我们报告了一例3岁男性病例，因14号染色体的母源性UPiD，出现了与TECPR2相关的遗传性感觉和自主神经病变（HSAN9）和坦普尔综合征（TS14）的混合表型，其中包括TECPR2基因[NM_014844.5: c.1319del, p.Leu440Argfs*19]的功能丧失性始祖变异。该病例说明了与超罕见疾病混合表型相关的挑战，并强调了在具有明确印记障碍的患者出现非典型临床特征时，对纯合子区域的隐性疾病进行调查的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b290/11822794/f3c790338bcb/ACN3-12-448-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b290/11822794/f3c790338bcb/ACN3-12-448-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b290/11822794/f3c790338bcb/ACN3-12-448-g001.jpg

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本文引用的文献

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2
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.伴有智力障碍的TECPR2相关遗传性感觉和自主神经病变的临床、神经影像学及分子谱
Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11.
3
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.
由7号染色体母源等臂双体导致的Silver-Russell综合征和SPG50的混合表型
Neurol Genet. 2020 Dec 29;7(1):e544. doi: 10.1212/NXG.0000000000000544. eCollection 2021 Feb.
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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.14q32印记MEG8-DMR的新见解以及坦普尔综合征新患者的临床和分子描述。
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TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.TECPR2突变导致一种新的家族性自主神经功能障碍亚型，类似于伴有智力残疾的遗传性感觉自主神经病变。
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