Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia.
Appl Immunohistochem Mol Morphol
; 29(7): 546-550, 2021 08 01.
Article
em En
| MEDLINE
| ID: mdl-33595934
ABSTRACT
Next-generation sequencing technology and advanced sequence analysis techniques are markedly speeding up the identification of gene variants causing rare genetic diseases. Pseudoachondroplasia (PSACH, MIM 177170) is a rare disease inherited in an autosomal dominant manner. It is known that variations in the cartilage oligomeric matrix protein (COMP) gene are associated with the disease. Here, we report a 39-month-old boy with short stature. He gave visible growth and development delayed phenotype after 12 months. Further genetic resequencing analysis was carried out to identified the disease-causing variant. Furthermore, computational approaches were used to characterize the effect of the variant. In this study, we identify and report a novel variation in the COMP gene, c.1420_1422del (p.Asn47del), causing a spontaneous form of PSACH in our patient. Our in silico model indicated that any mutational changes in this region are very susceptible to PASCH phenotype. Overall, this study is the first PSACH case in the Turkish Cypriot population. Moreover, this finding contributes to the concept that the genotype-phenotype correlation in COMP is still unknown and also improves our understanding of this complex disorder.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acondroplasia
/
Sequência de Aminoácidos
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Deleção de Sequência
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Proteína de Matriz Oligomérica de Cartilagem
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Appl Immunohistochem Mol Morphol
Assunto da revista:
BIOLOGIA MOLECULAR
/
HISTOCITOQUIMICA
Ano de publicação:
2021
Tipo de documento:
Article