Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Morphogene Knochenprotein-Rezeptor Typ 1B

Das BMPR1B-Gen kodiert einen Rezeptor mit Threonin/Serin-Kinase Funktion, der in die Regulation der Knochenbildung eingebunden ist. Mutationen führen zu verschiedenen autosomal dominanten Formen der Brachydaktylie und zu einer rezessiven Form der Acromesomelen Dysplasie vom Typ Demirhan.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Akromesomele Dysplasie Typ Demirhan
BMPR1B
Brachydaktylie Typ A1, D
BMPR1B
Brachydaktylie Typ A2
BMPR1B

Referenzen:

1.

Cejalvo T et. al. (2007) Bone morphogenetic protein-2/4 signalling pathway components are expressed in the human thymus and inhibit early T-cell development.

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2.

ten Dijke P et. al. (1994) Characterization of type I receptors for transforming growth factor-beta and activin.

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3.

Ide H et. al. (1997) Cloning of human bone morphogenetic protein type IB receptor (BMPR-IB) and its expression in prostate cancer in comparison with other BMPRs.

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4.

Ide H et. al. (1998) Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping.

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5.

Aström AK et. al. (1999) Chromosomal localization of three human genes encoding bone morphogenetic protein receptors.

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6.

Lehmann K et. al. (2003) Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

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7.

Yoon BS et. al. (2005) Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo.

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8.

Demirhan O et. al. (2005) A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

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9.

Lehmann K et. al. (2006) A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

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10.

Graul-Neumann LM et. al. (2014) Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

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11.

Racacho L et. al. (2015) Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

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12.

Stange K et. al. (2015) A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

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Update: 31. März 2018