A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay

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...

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Autores principales: Scheffer-Rath, Mirjam E.A., Veenstra-Knol, Hermine E., Boot, Annemieke M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368755/
https://www.ncbi.nlm.nih.gov/pubmed/37501674
http://dx.doi.org/10.1016/j.bonr.2023.101699
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author Scheffer-Rath, Mirjam E.A.
Veenstra-Knol, Hermine E.
Boot, Annemieke M.
author_facet Scheffer-Rath, Mirjam E.A.
Veenstra-Knol, Hermine E.
Boot, Annemieke M.
author_sort Scheffer-Rath, Mirjam E.A.
collection PubMed
description 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.
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spelling pubmed-103687552023-07-27 A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay Scheffer-Rath, Mirjam E.A. Veenstra-Knol, Hermine E. Boot, Annemieke M. Bone Rep Case Report 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. Elsevier 2023-07-15 /pmc/articles/PMC10368755/ /pubmed/37501674 http://dx.doi.org/10.1016/j.bonr.2023.101699 Text en © 2023 The Authors. Published by Elsevier Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Scheffer-Rath, Mirjam E.A.
Veenstra-Knol, Hermine E.
Boot, Annemieke M.
A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
title A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
title_full A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
title_fullStr A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
title_full_unstemmed A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
title_short A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
title_sort novel mutation in pthlh in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368755/
https://www.ncbi.nlm.nih.gov/pubmed/37501674
http://dx.doi.org/10.1016/j.bonr.2023.101699
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