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Article

PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.

Clinical genetics - 1 Jul 2020

Khan Amjad, Alaamery Manal, Massadeh Salam, Obaid Abdulrahman, Kashgari Amna A, Walsh Christopher A, Eyaid Wafaa

Abstract excerpt

Primary microcephaly (PM) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes and loci identified to date. We report a consanguineous family with PM, intellectual disability and short stature. Using whole exome sequencing, we identified a homozygous frameshift variant in programmed cell death 6 interacting protein (PDCD6IP, c.154_158dup; p.Val54Profs*18). This gene, PDCD6IP,...

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Identifiers

PMID: 32286682
DOI: 10.1111/cge.13756
PMCID: PMC8061709

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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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