Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

被引：59

作者：

Zarate, Yuri A. ^{[1
]}

Smith-Hicks, Constance L. ^{[2
,3
]}

Greene, Carol ^{[4
]}

Abbott, Mary-Alice ^{[5
]}

Siu, Victoria M. ^{[6
]}

Calhoun, Amy R. U. L. ^{[7
]}

Pandya, Arti ^{[8
]}

Li, Chumei ^{[9
]}

Sellars, Elizabeth A. ^{[1
]}

Kaylor, Julie ^{[10
]}

Bosanko, Katherine ^{[1
]}

Kalsner, Louisa ^{[11
,12
,13
]}

Basinger, Alice ^{[14
]}

Slavotinek, Anne M. ^{[15
]}

Perry, Hazel ^{[15
]}

Saenz, Margarita ^{[16
]}

Szybowska, Marta ^{[9
]}

Wilson, Louise C. ^{[17
]}

Kumar, Ajith ^{[17
]}

Brain, Caroline ^{[18
]}

Balasubramanian, Meena ^{[19
]}

Dubbs, Holly ^{[20
]}

Ortiz-Gonzalez, Xilma R. ^{[20
]}

Zackai, Elaine ^{[20
]}

Stein, Quinn ^{[21
,22
]}

Powell, Cynthia M. ^{[8
]}

Vergano, Samantha Schrier ^{[23
]}

Britt, Allison ^{[24
]}

Sun, Angela ^{[25
,26
]}

Smith, Wendy ^{[27
]}

Bebin, E. Martina ^{[28
]}

Picker, Jonathan ^{[29
]}

Kirby, Amelia ^{[30
]}

Pinz, Hailey ^{[30
]}

Bombei, Hannah ^{[7
]}

Mahida, Sonal ^{[2
,3
]}

Cohen, Julie S. ^{[2
,3
]}

Fatemi, Ali ^{[2
,3
]}

Vernon, Hilary J. ^{[2
,3
]}

McClellan, Rebecca ^{[2
,3
]}

Fleming, Leah R. ^{[31
]}

Knyszek, Brittney ^{[31
]}

Steinraths, Michelle ^{[32
]}

Gonzalez, Cruz Velasco ^{[33
]}

Beck, Anita E. ^{[25
,26
]}

Golden-Grant, Katie L. ^{[26
]}

Egense, Alena ^{[4
]}

Parikh, Aditi ^{[34
,35
,36
]}

Raimondi, Chantalle ^{[37
]}

Angle, Brad ^{[37
]}

机构：

[1] Univ Arkansas Med Sci, Sect Genet & Metab, Little Rock, AR 72205 USA

[2] Kennedy Krieger Inst, Dept Neurol, Div Neurogenet, Baltimore, MD USA

[3] Johns Hopkins Univ, Sch Med, Baltimore, MD USA

[4] Univ Maryland Baltimore, Dept Pediat, Baltimore, MD USA

[5] Baystate Med Ctr, Dept Pediat, Springfield, MA 01199 USA

[6] Univ Western Ontario, Div Med Genet, Dept Pediat, London, ON, Canada

[7] Univ Iowa, Dept Pediat, Div Med Genet, Iowa City, IA 52242 USA

[8] Univ N Carolina, Dept Pediat, Div Genet & Metab, Chapel Hill, NC USA

[9] McMaster Univ, Clin Genet Program, Med Ctr, Hamilton, ON, Canada

[10] InformedDNA, St Petersburg, FL USA

[11] Connecticut Childrens Med Ctr, Dept Neurol, Farmington, CT USA

[12] Connecticut Childrens Med Ctr, Dept Pediat, Farmington, CT USA

[13] Univ Connecticut, Ctr Hlth, Farmington, CT USA

[14] Cook Childrens Phys Network, Ft Worth, TX USA

[15] Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA USA

[16] Childrens Hosp Colorado, Aurora, CO USA

[17] Great Ormond St Children NHS Fdn Trust, Dept Genet, London, England

[18] Great Ormond St Children NHS Fdn Trust, Dept Endocrinol, London, England

[19] Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

[20] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[21] Sanford Childrens Hosp, Div Pediat Neurol, Sanford Childrens Specialty Clin, Sioux Falls, SD USA

[22] Sanford Childrens Hosp, Div Genet, Sanford Childrens Specialty Clin, Sioux Falls, SD USA

[23] Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA USA

[24] Univ Texas Med Branch, Dept Pediat, Div Med Genet, Galveston, TX 77555 USA

[25] Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA

[26] Seattle Childrens Hosp, Seattle, WA USA

[27] Barbara Bush Childrens Hosp, Dept Pediat, Maine Med Ctr, Portland, ME USA

[28] Univ Alabama Birmingham, Dept Neurol, UAB Stn, Birmingham, AL 35294 USA

[29] Boston Childrens Hosp, Boston, MA USA

[30] SSM Hlth Cardinal Glennon Childrens Hosp, Div Med Genet, St Louis, MO USA

[31] St Lukes Childrens Hosp, Clin Genet & Genom, Boise, ID USA

[32] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada

[33] Univ Arkansas Med Sci, Dept Pediat, Biostat Program, Little Rock, AR 72205 USA

[34] Univ Toledo, Dept Pediat, 2801 W Bancroft St, Toledo, OH 43606 USA

[35] Univ Hosp Cleveland, Med Ctr, Cleveland, OH 44106 USA

[36] Case Western Reserve Univ, Sch Med, Dept Genet & Genome Sci, Cleveland, OH 44106 USA

[37] Advocate Childrens Hosp, Park Ridge, IL USA

[38] Fullerton Genet Ctr, Asheville, CA USA

[39] FDNA Inc, Boston, MA USA

[40] Univ Alabama Birmingham, Birmingham, AL USA

[41] Greenwood Genet Ctr, Greenwood, SC 29646 USA

[42] Emory Univ, Sch Med, Atlanta, GA USA

[43] Columbia Univ, Dept Pediat & Med, New York, NY USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 04期

关键词：

2q33.1; facial recognition technology; genotype-phenotype correlation; natural history; SATB; SATB2-associated syndrome; CLEFT-PALATE; SATB2; MUTATION; OSTEOPOROSIS; VARIANTS; SEQUENCE; DELETION; PATIENT; DELAY;

D O I：

10.1002/ajmg.a.38630

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in-depth phenotypic characterization or genotype-phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals with a molecularly confirmed diagnosis of SAS were referred after clinical diagnostic testing. In this series we present the most comprehensive phenotypic and genotypic characterization of SAS to date, including prevalence of each clinical feature, neurodevelopmental milestones, and when available, patient management. We confirm that the most distinctive features are neurodevelopmental delay with invariably severely limited speech, abnormalities of the palate (cleft or high-arched), dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. This comprehensive clinical characterization will help clinicians with the diagnosis, counseling and management of SAS and help provide families with anticipatory guidance.

引用

页码：925 / 935

页数：11

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