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三位钴胺素代谢先天性错误患者的新型剪接位点突变和大片段缺失。

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.

机构信息

Department of Human Genetics, McGill University, Montreal, Canada.

出版信息

Mol Genet Metab. 2011 Apr;102(4):505-7. doi: 10.1016/j.ymgme.2011.01.002. Epub 2011 Jan 14.

DOI:10.1016/j.ymgme.2011.01.002
PMID:21303734
Abstract

The cblF disorder, characterized by accumulation of internalized cobalamin in the lysosome, is caused by mutations in the LMBRD1 gene which encodes an integral lysosomal membrane protein. We describe novel mutations in LMBRD1 in three patients: two splice site mutations, c.916-1G>T and c.1339-1G>T, and a 6785 bp deletion encompassing exon 2, c.70-4298_246+2311del6785. The three patients are compound heterozygotes for one novel mutation and the common c.1056delG mutation.

摘要

cblF 病，其特征是溶酶体内内化钴胺素的积累，是由编码整合溶酶体膜蛋白的 LMBRD1 基因突变引起的。我们在三个患者中描述了 LMBRD1 的新突变：两个剪接位点突变，c.916-1G>T 和 c.1339-1G>T，以及一个包含外显子 2 的 6785 bp 缺失，c.70-4298_246+2311del6785。这三个患者均为一种新突变和常见的 c.1056delG 突变的复合杂合子。

相似文献

[1]
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.

Mol Genet Metab. 2011-1-14

[2]
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[3]
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[4]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations.

J Hum Genet. 2025-4

[2]
Vitamin B Metabolism: A Network of Multi-Protein Mediated Processes.

Int J Mol Sci. 2024-7-23

[3]
Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome Exome Sequencing and Low-Coverage Whole-Genome Sequencing.

Front Genet. 2021-9-20

[4]
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

J Inherit Metab Dis. 2017-1

[5]
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.

Mol Syndromol. 2016-2

[6]
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

J Inherit Metab Dis. 2015-11

[7]
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.

JIMD Rep. 2015

[8]
Vitamin B(12) metabolism during pregnancy and in embryonic mouse models.

Nutrients. 2013-9-10

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