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With great interest we read the publication by Shaheen et al1 in which they describe a novel syndrome of hypohydrosis and intellectual disability that is linked to the presence of a homozygous intronic mutation in the COG6 gene. This mutation is associated with a deficiency of the COG6 protein, as evidenced by RT-PCR results. However, unlike the majority of known cases of COG deficiency, including COG6-congenital disorders of glycosylation (CDG) reports,2 ,3 they did not find the characteristic transferrin iso-electric focusing …
Contributors: HH, HCMTP and PMvH: wrote the letter. CT, CK and NMV-D critically reviewed the letter and provided comments.
Competing interests None.
Provenance and peer review Not commissioned; internally peer reviewed.