title: Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.
abstract: Chromosome region 10q22.3-q23.3 contains several low copy repeats (LCRs) and is prone to recombination. Deletions with breakpoints within LCR3 and LCR4 have been described to be associated with intellectual disability and dysmorphic features, while the reciprocal duplications are rarely reported. We present an additional case with multiple congenital anomalies that include microcephaly, cardiac defect, and mild intellectual disability, in which a de novo interstitial 8.2-Mb duplication of 10q22.3-q23.3, including BMPR1A and NGR3, was identified by Illumina SNP array platform. Our study is consistent with the hypothesis that the BMPR1A is a plausible candidate gene for congenital heart disease (CHD) and should contribute to the diagnosis and treatment of these genomic diseases.
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Mi
authors.initials: M
authors.lastname: Tang
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.|Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Yi-Feng
authors.initials: YF
authors.lastname: Yang
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Li
authors.initials: L
authors.lastname: Xie
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Jin-Lan
authors.initials: JL
authors.lastname: Chen
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Wei-Zhi
authors.initials: WZ
authors.lastname: Zhang
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.|Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Tian-Li
authors.initials: TL
authors.lastname: Zhao
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.|Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Jin-Fu
authors.initials: JF
authors.lastname: Yang
authors.affiliation: Department of Cardiothoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.|Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Zhi-Ping
authors.initials: ZP
authors.lastname: Tan
mesh_terms: D000328:Adult; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D020440:Gene Duplication; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D000070156:Nogo Receptors; D011379:Prognosis; D011956:Receptors, Cell Surface / Q000235:genetics*; D055815:Young Adult
chemical_list: D058851:GPI-Linked Proteins; D000070156:Nogo Receptors; C474328:RTN4RL1 protein, human; D011956:Receptors, Cell Surface; C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I
keywords: CNV; SNP array; dosage-sensitive gene; duplication 10q22.3-q23.3; low copy repeats