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Article

DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

American journal of medical genetics. Part A - 1 Jan 2018

Iwata-Otsubo Aiko, Ritter Alyssa L, Weckselbatt Brooke, Ryan Nicole R, Burgess David, Conlin Laura K, Izumi Kosuke

Abstract excerpt

Dedicator of cytokinesis (DOCK) family are evolutionary conserved guanine nucleotide exchange factors (GEFs) for the Rho GTPases, Rac, and Cdc42. DOCK3 functions as a GEF for Rac1, and plays an important role in promoting neurite and axonal growth by stimulating actin dynamics and microtubule assembly pathways in the central nervous system. Here we report a boy with developmental delay, hypotonia, and ataxia due...

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Identifiers

PMID: 29130632
DOI: 10.1002/ajmg.a.38517
PMCID: PMC5726891

Genes

DOCK3

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.PMID 29130632Read ↗

Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.Semantic proximity Read ↗

Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family.Semantic proximity Read ↗

Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.Semantic proximity Read ↗

DOCK3 regulates normal skeletal muscle regeneration and glucose metabolismSemantic proximity Read ↗

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.Semantic proximity Read ↗

Heterozygous loss-of function variants in DOCK4 cause neurodevelopmental delay and microcephalySemantic proximity Read ↗

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.Semantic proximity Read ↗

Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies.Semantic proximity Read ↗

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DOCK7 regulates WNT signaling and NMJ clustering in normal and DMD muscleSemantic proximity Read ↗

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.Semantic proximity Read ↗

Dysfunction of a SET3-like complex underlies a family of related neurological disordersSemantic proximity Read ↗

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