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A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum

Chinese Medical Journal 2019年第14期132卷 1681-1688页

作者： Jia Huang Hong-Yan Liu Rong-Rong Wang Hai Xiao Dong Wu Tao Li Ying-Hai Jiang Xue Zhang The Research Center for Medical Genomics Key Laboratory of Medical Cell BiologyChinese Ministry of EducationCollege of Basic Medical ScienceChina Medical UniversityShenyangLiaoning 110122China Institute of Medical Genetics Henan Provincial People's HospitalPeople's Hospital of Zhengzhou UniversitySchool of Clinical MedicineHenan UniversityZhengzhouHenan 450003China McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical Sciences Chinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijing 100005China

Background:Brachydactyly,a developmental disorder,refers to shortening of hands/feet due to small or missing metacarpals/ metatarsals and/or *** brachydactyly type E (BDE),characterized by shortened metacarpals and/or metatarsals,consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) *** is often accompanied by other anomalies that are parts of many congenital *** this study,we investigated a Chinese family presented with BDE combined with pectus carinatum and short ***:A four-generation Chinese family was recruited in June *** informed consent was obtained,venous blood was collected,and genomic DNA was extracted by standard ***-exome sequencing was performed to screen pathogenic mutation,array comparative genomic hybridization (Array-CGH) analysis was used to analyze copy number variations,and quantitative real-time polymerase chain reaction (PCR),stride over breakpoint PCR (gap-PCR),and Sanger sequencing were performed to confirm the candidate ***:A 3.06-Mb deletion (chr12:25473650-28536747) was identified and segregated with the phenotype in this *** deletion region encompasses 23 annotated genes,one of which is PTHLH which has been reported to be causative to the *** is an important regulator of endochondral bone *** affected individuals showed bilateral,severe,and generalized brachydactyly with short stature,pectus carinatum,and prematurely fusion of *** feature of pectus carinatum has not been described in the PTHLH-related BDE patients ***:The haploinsufficiency of PTHLH might be responsible for the disease in this *** study has expanded the knowledge on the phenotypic presentation of PTHLH variation.

关键词： Brachydactyly type E parathyroid-hormone-like hormone Pectus carinatum Short stature Copy number variation

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