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Article

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

American journal of human genetics - 1 Aug 2008

Barel Ortal, Shalev Stavit A, Ofir Rivka, Cohen Asi, Zlotogora Joel, Shorer Zamir, Mazor Galia, Finer Gal, Khateeb Shareef, Zilberberg Noam, Birk Ohad S

Abstract excerpt

We describe a maternally transmitted genomic-imprinting syndrome of mental retardation, hypotonia, and unique dysmorphism with elongated face. We mapped the disease-associated locus to approximately 7.27 Mb on chromosome 8q24 and demonstrated that the disease is caused by a missense mutation in the maternal copy of KCNK9 within this locus. KCNK9 is maternally transmitted (imprinted with paternal silencing) and...

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Share to Chromosomes, Human, Pair 8
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Tandem Pore Domain

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Source

Open in PubMed Open full text

Identifiers

PMID: 18678320
DOI: 10.1016/j.ajhg.2008.07.010
PMCID: PMC2495061

Genes

KCNK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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