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Article

Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.

Molecular genetics and genomics : MGG - 1 Jun 2018

Li Sisi, Xi Quansheng, Zhang Xiaoyu, Yu Dong, Li Lin, Jiang Zhenyang, Chen Qiuyun, Wang Qing K, Traboulsi Elias I

Abstract excerpt

We investigated an Amish family in which three siblings presented with an early-onset childhood retinal dystrophy inherited in an autosomal recessive fashion. Genome-wide linkage analysis identified significant linkage to marker D2S2216 on 2q11 with a two-point LOD score of 1.95 and a multi-point LOD score of 3.76. Whole exome sequencing was then performed for the three affected individuals and identified a...

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Source

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Identifiers

PMID: 29322253
DOI: 10.1007/s00438-018-1417-6
PMCID: PMC5949075

Genes

CNNM4
IQCB1
CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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