A novel mutation in <i>PTHLH</i> in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 37501674.
- Also identified by DOI 10.1016/j.bonr.2023.101699 and PMC identifier 10368755.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Mutations in <i>PTHLH</i> (PTH-like hormone), cause brachydactyly type E (BDE) characterized by shortening of metacarpals, metatarsals and/or phalanges with short stature. In this report we describe three siblings and their mother with a novel heterozygous mutation c.25 T > C, p.Trp9Arg in exon 2 of the <i>PTHLH</i> gene. Beside the known clinical features of PTHLH mutations all had a delay in speech and language development, unknown if this is related to the mutation. Patients with PTHLH mutation may have a variable phenotypic presentation.