A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
Mirjam E.A. Scheffer-Rath,
Hermine E. Veenstra-Knol,
Annemieke M. Boot
Affiliations
Mirjam E.A. Scheffer-Rath
Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands
Hermine E. Veenstra-Knol
Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands
Annemieke M. Boot
Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands; Corresponding author at: Department of Pediatric Endocrinology, University Medical Center Groningen – Beatrix Children's Hospital, University of Groningen, P.O. Box 30001, 9700 RB Groningen, the Netherlands.
Mutations in PTHLH (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 PTHLH 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.
