Brachydactyly in a child with duplication‐deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?

Pfeiffer, R. A.; Kändler, Chr.; Sieber, E; Rauch, Anita; Trautmann, Udo

doi:10.1111/j.1399-0004.1997.tb02489.x

Cited by 7 publications

(4 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our observations in the cases presented in this study may indicate that a gene for brachymesophalangism resides within the deleted chromosomal region on 15qter. This has been suggested before based on a case report of a boy with a terminal deletion of chromosome 15 from an unbalanced translocation t(15;20)(q25.2;p12.2) (31). He had short fingers with missing flexion creases on the second and fifth fingers, medial deviation of the index finger and rocker‐bottom feet.…”

Section: Discussionmentioning

confidence: 87%

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

et al. 2008

View full text Add to dashboard Cite

We reevaluated a unique family with two sibs who had a presumed autosomal recessively inherited syndrome characterized by mental retardation, microcephaly, short stature and absent phalanges. This family was originally described by Drayer et al. in 1977. Using modern molecular techniques, we demonstrated that the syndrome is caused by the recurrence of an apparently de novo 15qter deletion of 5.8 Mb. Analysis of polymorphic markers revealed that the deletion was of maternal origin in both cases, indicating germline mosaicism in the clinically unaffected mother. This study demonstrates the possibility of parental mosaicism and the risk of recurrence in sibs for terminal subtelomeric deletions.

show abstract

Section: Discussionmentioning

confidence: 87%

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

et al. 2008

View full text Add to dashboard Cite

show abstract

“…Pfeiffer et al [] report a child with a duplication‐deficiency associated with a de novo chromosome translocation t(15;20)(q25.2p12.2). The child had short fingers with a missing flexion crease on the 2nd and 5th digits and medial deviation of the index finger.…”

Section: Discussionmentioning

confidence: 99%

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

Low¹,

Smith

Lee

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Two patients with large duplication of chromosome 20 encompassing BMP2 and the duplicated regulator sequence described here were reported to have a BDA2 phenotype in association with other malformations. 43,44 It is to be expected that a duplication of the entire BMP2 gene including the regulatory regions results in an increase in BMP2 expression. Assuming that the isolated BDA2 phenotype is caused by the same mechanism, a positional effect of the duplication reported here seems thus unlikely.…”

mentioning

confidence: 99%

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Dathe

Kjaer

Brehm

et al. 2009

The American Journal of Human Genetics

140

View full text Add to dashboard Cite

Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5). A linkage analysis performed in a mutation-negative family identified a novel locus for BDA2 on chromosome 20p12.3 that incorporates the gene for Bone morphogenetic protein 2 (BMP2). No point mutation was identified in BMP2, so a high-density array CGH analysis covering the critical interval of approximately 1.3 Mb was performed. A microduplication of approximately 5.5 kb in a noncoding sequence approximately 110 kb downstream of BMP2 was detected. Screening of other patients by qPCR revealed a similar duplication in a second family. The duplicated region contains evolutionary highly conserved sequences suggestive of a long-range regulator. By using a transgenic mouse model we can show that this sequence is able to drive expression of a X-Gal reporter construct in the limbs. The almost complete overlap with endogenous Bmp2 expression indicates that a limb-specific enhancer of Bmp2 is located within the identified duplication. Our results reveal an additional functional mechanism for the pathogenesis of BDA2, which is duplication of a regulatory element that affects the expression of BMP2 in the developing limb.

show abstract

Brachydactyly in a child with duplication‐deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?

Cited by 7 publications

References 13 publications

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Contact Info

Product

Resources

About