Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

被引：42

作者：

Peddibhotla, Sirisha ^{[1
]}

Nagamani, Sandesh C. S. ^{[1
]}

Erez, Ayelet ^{[1
,2
]}

Hunter, Jill V. ^{[3
]}

Holder, J. Lloyd, Jr. ^{[4
,5
]}

Carlin, Mary E. ^{[6
]}

Bader, Patricia I. ^{[7
,8
]}

Perras, Helene M. F. ^{[9
]}

Allanson, Judith E. ^{[9
]}

Newman, Leslie ^{[10
]}

Simpson, Gayle ^{[11
]}

Immken, LaDonna ^{[11
]}

Powell, Erin ^{[12
]}

Mohanty, Aaron ^{[13
]}

Kang, Sung-Hae L. ^{[14
]}

Stankiewicz, Pawel ^{[1
]}

Bacino, Carlos A. ^{[1
]}

Bi, Weimin ^{[1
]}

Patel, Ankita ^{[1
]}

Cheung, Sau W. ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Weizmann Inst Sci, Dept Regulat Biol, IL-76100 Rehovot, Israel

[3] Baylor Coll Med, Dept Radiol, Houston, TX 77030 USA

[4] Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA

[5] Texas Childrens Hosp, Houston, TX USA

[6] Univ Texas Dallas, SW Med Ctr, Dept Pediat, Dallas, TX 75230 USA

[7] Parkview Cytogenet, Ft Wayne, IN USA

[8] Northeast Indiana Genet Counseling Ctr, Ft Wayne, IN USA

[9] Conseillere Genet Agreee, Programme Reg Geneti, Reg Genet Program, Ottawa, ON, Canada

[10] Scott & White Mem Hosp & Clin, Temple, TX 76508 USA

[11] Especially Children, Austin, TX USA

[12] Vanderbilt Univ Sch Med, Dept Pediat, Nashville, TN USA

[13] Univ Texas Med Branch, Dept Neurosurg, Galveston, TX 77555 USA

[14] Allina Med Labs, Minneapolis, MN USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2015年 / 23卷 / 01期

关键词：

THROMBOSPONDIN-2; PHENOTYPE; NOTCH; MICE; EXPRESSION; LOCI;

D O I：

10.1038/ejhg.2014.51

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may lead to a better genotype-phenotype correlation. We conducted a detailed clinical and molecular characterization of seven unrelated patients with deletions involving chromosome 6q27. All patients had structural brain abnormalities. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. The smallest region of overlap spans 1.7Mb and contains DLL1, THBS2, PHF10, and C6orf70 (ERMARD) that are plausible candidates for the causation of structural brain abnormalities. Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies.

引用

页码：54 / 60

页数：7

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