Heterozygous variants in SPTBN1 cause intellectual disability and autism

Rosenfeld Jill A.; Xiao Rui; Bekheirnia Mir Reza; Kanani Farah; Parker Michael J.; Koenig Mary K.; van Haeringen Arie; Ruivenkamp Claudia; Rosmaninho-Salgado Joana; Almeida Pedro M.; Sa Joaquim; Basto Jorge Pinto; Palen Emily; Oetjens Kathryn F.; Burrage Lindsay C.; Xia Fan; Liu Pengfei; Eng Christine M.; Yang Yaping; Posey Jennifer E.; Lee Brendan H.

首页> 外文期刊>American journal of medical genetics, Part A >Heterozygous variants in SPTBN1 cause intellectual disability and autism

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Heterozygous variants in SPTBN1 cause intellectual disability and autism

机译：SPTBN1中的杂合性变异引起智力残疾和自闭症

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Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization of essential membrane proteins, signal transduction, and cellular scaffolding. Spectrins are assembled from alpha and beta subunits, encoded by SPTA1 and SPTAN1 (alpha) and SPTB, SPTBN1, SPTBN2, SPTBN4, and SPTBN5 (beta). Pathogenic variants in various spectrin genes are associated with erythroid cell disorders (SPTA1, SPTB) and neurologic disorders (SPTAN1, SPTBN2, and SPTBN4), but no phenotypes have been definitively associated with variants in SPTBN1 or SPTBN5. Through exome sequencing and case matching, we identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities). Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset. Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis. Our findings support the essential roles of SPTBN1 in human neurodevelopment and expand the knowledge of human spectrinopathy disorders.

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来源
《American journal of medical genetics, Part A》 |2021年第7期|共9页
作者
Rosenfeld Jill A.; Xiao Rui; Bekheirnia Mir Reza; Kanani Farah; Parker Michael J.; Koenig Mary K.; van Haeringen Arie; Ruivenkamp Claudia; Rosmaninho-Salgado Joana; Almeida Pedro M.; Sa Joaquim; Basto Jorge Pinto; Palen Emily; Oetjens Kathryn F.; Burrage Lindsay C.; Xia Fan; Liu Pengfei; Eng Christine M.; Yang Yaping; Posey Jennifer E.; Lee Brendan H.;
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作者单位

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

Sheffield Childrens NHS Fdn Trust Sheffield Clin Genet Serv Sheffield S Yorkshire England;

Sheffield Childrens NHS Fdn Trust Sheffield Clin Genet Serv Sheffield S Yorkshire England;

Univ Texas Houston McGovern Med Sch Dept Pediat Houston TX USA;

Leiden Univ Dept Clin Genet Med Ctr Leiden Netherlands;

Leiden Univ Dept Clin Genet Med Ctr Leiden Netherlands;

Ctr Hosp &

Univ Coimbra Hosp Pediat Med Genet Unit Coimbra Portugal;

Ctr Hosp &

Univ Coimbra Hosp Pediat Med Genet Unit Coimbra Portugal;

Ctr Hosp &

Univ Coimbra Hosp Pediat Med Genet Unit Coimbra Portugal;

CGC Genet Mol Diagnost &

Clin Genom Porto Portugal;

Geisinger Autism &

Dev Med Inst Danville PA USA;

Geisinger Autism &

Dev Med Inst Danville PA USA;

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet One Baylor Plaza Rm R804 MS BCM225 Houston TX 77030 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
neurodevelopmental disorder; spectrin; spectrinopathy; SPTBN1;

机译：神经发育障碍;光谱;光谱疗法;SPTBN1;

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4. Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability [J] . Areerat Hnoonual, Potchanapond Graidist, Supika Kritsaneepaiboon, Frontiers in Genetics . 2019,第1期

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机译：患有Forme-Fruste Marfan综合征和智力残疾患者CHD8中的杂合无意义
6. HIST1H1E HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals [J] . Burkardt Deepika DCunha, Zachariou Anna, Loveday Chey, American journal of medical genetics, Part A . 2019,第10期

机译：Hist1H1E Hist1H1E杂合蛋白截断变体导致识别综合征，具有智力残疾和独特的面部蜂醛：一项研究，以澄清30个个体中的HIST1H1E综合征表型
7. An Overview of Virtual Reality Interventions for Two Neurodevelopmental Disorders: Intellectual Disabilities and Autism [C] . Anders Nordahl-Hansen, Anders Dechsling, Stefan Suetterlin, International conference on augmented cognition;International conference on human-computer interaction . 2020

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8. Autosomal Recessive Variants in Intellectual Disability and Autism Spectrum Disorder [D] . Harripaul, Ricardo Simeon. 2021

机译：智能疾病和自闭症谱系血型术中的常染色体隐性变体
9. Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder [O] . Johannes Krämer, Meinrad Beer, Harald Bode, 2020

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11. Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder. Technical Brief Number 23. [R] . 2015

机译：发育障碍，智力残疾和自闭症谱系障碍的基因检测。技术摘要第23号。

Heterozygous variants in SPTBN1 cause intellectual disability and autism

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