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Haploinsufficiency in the ANKS1B Gene Encoding AIDA-1 Leads to a Neurodevelopmental Syndrome

Haploinsufficiency in the ANKS1B Gene Encoding AIDA-1 Leads to a Neurodevelopmental Syndrome

Abigail U Carbonell, Chang Hoon Cho, Jaafar O Tindi, Pamela A Counts, Juliana C Bates, Hediye Erdjument-Bromage, Svetlana Cvejic, Alana Iaboni, Ifat Kvint, Jenny Rosensaft, Ehud Banne, Evdokia Anagnostou, etc.

Nat Commun. 2019 Aug 6;10(1):3529.

PMID: 31388001

Abstract:

Neurodevelopmental disorders, including autism spectrum disorder, have complex polygenic etiologies. Single-gene mutations in patients can help define genetic factors and molecular mechanisms underlying neurodevelopmental disorders. Here we describe individuals with monogenic heterozygous microdeletions in ANKS1B, a predicted risk gene for autism and neuropsychiatric diseases. Affected individuals present with a spectrum of neurodevelopmental phenotypes, including autism, attention-deficit hyperactivity disorder, and speech and motor deficits. Neurons generated from patient-derived induced pluripotent stem cells demonstrate loss of the ANKS1B-encoded protein AIDA-1, a brain-specific protein highly enriched at neuronal synapses. A transgenic mouse model of Anks1b haploinsufficiency recapitulates a range of patient phenotypes, including social deficits, hyperactivity, and sensorimotor dysfunction. Identification of the AIDA-1 interactome using quantitative proteomics reveals protein networks involved in synaptic function and the etiology of neurodevelopmental disorders. Our findings formalize a link between the synaptic protein AIDA-1 and a rare, previously undefined genetic disease we term ANKS1B haploinsufficiency syndrome.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
AP168560790	AIDA		168560-79-0	Price

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