Dataset Information

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

ABSTRACT: BACKGROUND:Brachydactyly, a developmental disorder, refers to shortening of hands/feet due to small or missing metacarpals/metatarsals and/or phalanges. Isolated 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) mutations. BDE is often accompanied by other anomalies that are parts of many congenital syndromes. In this study, we investigated a Chinese family presented with BDE combined with pectus carinatum and short stature. METHODS:A four-generation Chinese family was recruited in June 2016. After informed consent was obtained, venous blood was collected, and genomic DNA was extracted by standard procedures. Whole-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 variation. RESULTS:A 3.06-Mb deletion (chr12:25473650-28536747) was identified and segregated with the phenotype in this family. The deletion region encompasses 23 annotated genes, one of which is PTHLH which has been reported to be causative to the BDE. PTHLH is an important regulator of endochondral bone development. The affected individuals showed bilateral, severe, and generalized brachydactyly with short stature, pectus carinatum, and prematurely fusion of epiphyses. The feature of pectus carinatum has not been described in the PTHLH-related BDE patients previously. CONCLUSIONS:The haploinsufficiency of PTHLH might be responsible for the disease in this family. This study has expanded the knowledge on the phenotypic presentation of PTHLH variation.

SUBMITTER: Huang J

PROVIDER: S-EPMC6759105 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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

Huang Jia J Liu Hong-Yan HY Wang Rong-Rong RR Xiao Hai H Wu Dong D Li Tao T Jiang Ying-Hai YH Zhang Xue X

Chinese medical journal 20190701 14

<h4>Background</h4>Brachydactyly, a developmental disorder, refers to shortening of hands/feet due to small or missing metacarpals/metatarsals and/or phalanges. Isolated 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) mutations. BDE is often accompanied by other anomalies that are parts of many congenital syndromes. In this study, we investigate ...[more]

PMID: 31283647

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Project description:BACKGROUND/PURPOSE:To report telemedicine's feasibility and satisfaction rates for treating patients with pectus carinatum using a dynamic compressor system. We analyzed treatment adherence in comparison with the previous, non-pandemic year. MATERIALS AND METHODS:Retrospective analysis including patients with pectus carinatum under treatment with a dynamic compressor system using telemedicine at the chest wall centers from two hospitals, private and public, between April and July 2020. A free video conference platform for teleconsultations was employed. We evaluated the incidence of pectus cases with telemedicine, the number of dynamic compressor system prescriptions, the number of patients in the correction phase, and the number who ended treatment. To assess adherence, we compared our cohort with an in-person cohort during the same time frame of the previous, non-pandemic year. In addition, we performed a patient satisfaction survey comprising questions related to socioeconomic status, the likeability of telemedicine, simplicity of modification of the system, and desire to continue with telepectus after the pandemic. RESULTS:One hundred and thirty-six telepectus consultations were performed in 76 patients. During this time frame, 15 patients started using the dynamic compressor system. Compared to the previous, non-pandemic year, the number of consultations per patient was similar (2019: 1.92 ± 1 .0 vs. 2020: 1.79 ± 0.8, p = 0.32), and there was a significant reduction in the number of dropouts with the use of telemedicine (9% vs. 1%, p = 0.025). Fifty-nine patients answered the satisfaction survey. All of them solved their doubts through telemedicine. Overall, 95% found telemedicine comfortable. Of note, those with a lower income evidenced the highest intention in continuing with telemedicine. CONCLUSIONS:We demonstrated the feasibility of remote care of patients with pectus carinatum using a dynamic compressor system with a similar frequency of consultations compared to in-person medical care. Telepectus patients revealed a high rate of satisfaction irrespective of their socioeconomic status. LEVEL OF EVIDENCE:IV. TYPE OF STUDY:Retrospective study.

Dataset Information

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

Publications

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

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