Brachydactyly Type A2

Last update 08 May 2025

Basic Info

Synonyms

BDA2, BRACHYDACTYLY, TYPE A2, BRACHYMESOPHALANGY II

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Introduction

A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11.

100 Clinical Results associated with Brachydactyly Type A2

100 Translational Medicine associated with Brachydactyly Type A2

0 Patents (Medical) associated with Brachydactyly Type A2

Literatures (Medical) associated with Brachydactyly Type A2

20 Feb 2023·Yi chuan = Hereditas

PBL teaching design of medical genetics with the case of brachydactyly type A2.

Article

Author: Huang, Lu-Jie ; Zhu, Yan ; Ma, Jie ; Zhang, Qiao-Xia ; Qian, Lu

Medical genetics, which is a frontier subject in biomedicine, is the clinical core of gene diagnosis and gene therapy. In the training of medical students, medical genetics plays an important role in bridging basic medicine and clinical medicine. In recent years, problem-based learning (PBL) has been widely used in medical education as an important method to cultivate the autonomous learning ability of medical students. In the current study, we designed and shared the research on brachydactyly type A2 (BDA2) as the main case of PBL teaching, in order to guide the students towards autonomous learning, and to cultivate independent analysis and problem solving ability instead of simple knowledge acquisition. Such excellent academic teaching will provide more high quality medical talents and internationally competitiveness for constructing a healthy China.

20 Dec 2022·Yi chuan = Hereditas

Functional analysis of the long-range regulatory element of BMP2 gene.

Article

Author: Huang, Lu-Jie ; Wei, Wan-Zhen ; Wan, Xing-Qi ; Cui, Yi-Xiao ; Ma, Jie ; Guo, Sheng-Liang ; Jing, Xue-Ying

Recently, several pedigree-based studies have shown that abnormal replication of an enhancer element regulatory region in the downstream of the bone morphogenetic protein 2 (BMP2) gene is the cause of brachydactyly type A2 (BDA2). However, the exact molecular function of this regulatory region is unclear, and even conflicting results have emerged. In this study, based on bioinformatics analysis, we amplified target fragments of different lengths in this regulatory region by PCR technology, including a highly conserved 2.1 kb core sequence and 3 fragments that can completely cover the core 2.1 kb fragment. Then, the gene recombination vectors were constructed, and the biological function of these fragments was analyzed by the dual-luciferase reporter gene technology system. We found that the highly conserved 2.1 kb fragment did not have enhancer activity, while all of three truncated fragments showed strong enhancer activity. The results suggest that the expression regulation mode of the BMP2 gene is very complex. For the downstream regulatory region, selecting fragments of different lengths may have different effects on the regulation of BMP2 expression, which may due to the fragments with different lengths carrying different regulatory elements in the number of types. In summary, this study revealed the complexity of BMP2 gene regulatory elements, and provided new clues and directions for the subsequent in-depth exploration of the molecular pathogenic mechanism of BDA2.

01 Dec 2022·Molecular CytogeneticsQ4 · BIOLOGY

A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review

Q4 · BIOLOGY

ArticleOA

Author: Sun, Luming ; Zou, Gang ; Wu, Fengyu ; Qu, Xiaoxing ; Alawbathani, Salem ; Xiong, Shiyi ; Chen, Guangquan

AbstractBackgroundWith the introduction of genetic tests such as chromosomal microarray analysis (CMA) and exome sequencing (ES) into fetal medical practices, genotype–phenotype correlations in intrauterine-onset disorders have substantially improved. The BMP2 gene, located on the long arm of chromosome 20 plays a role in bone and cartilage development and is associated with Brachydactyly type A2, an autosomal dominant disease characterized by malformations of the middle phalanx of the index finger and abnormalities of the second toe. However, the BMP2 gene has so far never been reported as a candidate gene for Brachydactyly type D (BDD) affecting only the thumbs.Methods and resultsHere, we report one family possessing a maternally inherited 6.3 Mb microduplication of 20p13p12.2 including the BMP2 gene with discordant phenotypes between the mother and the fetus. The mother was affected with BDD alongside mild facial dysmorphism and learning difficulties, while the female fetus showed BDD, severe symmetric intrauterine growth restriction combined with oligohydramnios. The CMA and Trio ES tests were implemented. Trio ES ruled out other possible monogenic causes for the family. After reviewing cases and literature with duplications within this genomic region, we found that they are extremely rare and most of the cited cases were too small for comparison. The disturbance of the BMP2 gene could explain BDD, but the other clinical presentations in the mother and fetus are not yet fully understood.ConclusionThis study provides important evidence for the current understanding of genotype–phenotype association of this 6.3 Mb size duplication in the 20p13p12.2 region. This duplication is a unique CNV occurring so far only in this family. Further cases and research are needed to understand the discordance in the phenotypes between the mother and fetus and establish the relationship between BMP2 gene and BDD.

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Brachydactyly Type A2

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