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Article

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.

Nature genetics - 1 Oct 2000

Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang H G, Orth U, Boavida M G, David D, Chelly J, Fryns J P, Moraine C, Ropers H H, Hamel B C, van Bokhoven H, Gal A

Abstract excerpt

X-linked forms of mental retardation (XLMR) include a variety of different disorders and may account for up to 25% of all inherited cases of mental retardation. So far, seven X-chromosomal genes mutated in nonspecific mental retardation (MRX) have been identified: FMR2, GDI1, RPS6KA3, IL1RAPL, TM4SF2, OPHN1 and PAK3 (refs 2-9). The products of the latter two have been implicated in regulation of neural plasticity...

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Share to Chromosomes, Human, Pair 21
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Source

Identifiers

PMID: 11017088
DOI: 10.1038/80002

Genes

ARHGEF6
GDI1
OPHN1
PAK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.PMID 11017088Read ↗

Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27.Semantic proximity Read ↗

[Monogenic causes of nonspecific X-linked mental retardation molecular aspects].Semantic proximity Read ↗

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.Semantic proximity Read ↗

[X-linked mental retardation].Semantic proximity Read ↗

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.Semantic proximity Read ↗

Clinical and molecular contributions to the understanding of X-linked mental retardation.Semantic proximity Read ↗

X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.Semantic proximity Read ↗

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.Semantic proximity Read ↗

Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.Semantic proximity Read ↗

X-linked mental deficiency.Semantic proximity Read ↗

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.Semantic proximity Read ↗

The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects.Semantic proximity Read ↗

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