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GDF11

On this page, you will find information about genetic changes that were identified in UDN participants. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in the GDF11 gene were identified in two UDN participants (Ravenscroft et al. 2021). One is a 33-year-old male with multiple congenital anomalies and intellectual disability (read full description). The other participant is a 13-year-old female with immune deficiency, joint pain (arthralgia), inflammation of the blood vessels in the eye (retinal vasculitis), and recurrent inflammation of the liver (hepatitis) (read full description)

Date of Report

Jun 14, 2021

Full Name

growth differentiation factor 11

Location
Chromosome 12 (12q13.2)
Location Image

Function

The GDF11 gene codes for a protein involved in the regulation of skeletal development (McPherron et al., 1999).

Database Links

GeneCards: GDF11

NCBI Gene: 10220

OMIM: 603936

UniProtKB/Swiss-Prot: O95390

Clinical Significance

Changes in this gene were identified in two UDN participants (Ravenscroft et al. 2021):

Participant 056, a 33-year-old male with multiple congenital anomalies and intellectual disability was found to carry the following de novo genetic change in the GDF11 gene:

  • c.1008C>G/p.Tyr336Ter (inheritance pattern: autosomal dominant, position: chr12:g.56143450C>G, transcript: NM_005811.4)

Clinicians and researchers believe that these genetic changes are causing the participant’s symptoms.

Participant 183, a 13-year-old with immune deficiency, joint pain (arthralgia), inflammation of the blood vessels in the eye (retinal vasculitis), and recurrent inflammation of the liver (hepatitis) was found to carry the following de novo genetic change in the GDF11 gene:

  • c.916G>A/p.Glu306Lys (inheritance pattern: unknown, position: chr12:g.56143358G>A, transcript: NM_005811.3)

Clinicians and researchers believe that these genetic changes are causing the participant’s symptoms.

Gene Inheritance Position (hg19) Transcript DNA Change Protein Change
GDF11 Autosomal dominant see gene page see gene page see gene page see gene page
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