AI Article Synopsis
- Albright hereditary osteodystrophy (AHO)-like syndrome, also called brachydactyly-mental retardation syndrome, includes issues like learning difficulties and bone problems.
- Some people with this syndrome can be overweight or have different-looking faces, and about half might have a condition that makes their fingers short.
- A family case showed that a specific gene change (the HDAC4 gene) can cause different symptoms, from just having short fingers to having other issues.
Article Abstract
Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040). This disorder includes intellectual disability in all patients, skeletal abnormalities, including brachydactyly E (BDE) in approximately half, obesity, and facial dysmorphism. Patients with 2q37 microdeletion or HDAC4 mutation are defined as having an AHO-like phenotype with normal stimulatory G (Gs) function. HDAC4 is involved in neurological, cardiac, and skeletal function. This paper reports the first familial case of 2q37.3 interstitial deletion affecting two genes, HDAC4 and TWIST2. Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the HDAC4 critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR.
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| http://dx.doi.org/10.1002/ajmg.a.36428 | DOI Listing |
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