Previous cardiomyopathies - including childhood onset
Gene: DOLK
Congenital disorder of glycosylation, type Im OMIM#610768Created: 25 Mar 2019, 4:30 p.m.
AR DCM is a key feature from birth: A family reported by Kranz (2007) Am J Hum Genet 80: 433 PubMed: 17273964 included 2 affected sibs born of consanguineous Turkish parents. In the first sib, ichthyosis congenita with inflammation of the skin was present at birth. At age 5 months, progressive hair loss was nearly complete, with sparse eyelashes and eyebrows. Dilated cardiomyopathy was present from birth and persisted throughout life. Severe muscular hypotonia was present and death occurred at home at age 7 months, most likely from aspiration. Sister showed muscular hypotonia at birth, and progressive dilated cardiomyopathy developed shortly after birth. Lefeber et al (2011) PlosGenet 7(12):e1002427.Infantile to late childhood onset. But teens can be affected - case series which segregates with disease - 1 teenage and other cases 9/10 year olds.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source South West GLH was added to DOLK.
Checked against the component panels and ready to promote to version 1.
Added phenotypes syndromic DCM for gene: DOLK
Added phenotypes Congenital disorder of glycosylation, type Im for gene: DOLK Publications for gene DOLK were changed from 24144945; 22242004 to 17273964; 22242004; 23890587
gene: DOLK was added gene: DOLK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 24144945; 22242004 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)