alexa Consulting For A Combination Of Molecular Defects For Variable Expression
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

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2nd World Congress on Rare Diseases and Orphan Drugs
June 29-30, 2017 London, UK

Yingjun Xie, Haiming Yuan and Xiaofang Sun
The Third Affiliated Hospital of Guangzhou Medical University, China
Guangzhou KingMed Center for Clinical Laboratory Co., Ltd, China
Guangzhou Medical University, China
ScientificTracks Abstracts: J Genet Syndr Gene Ther
DOI: 10.4172/2157-7412-C1-012
Background: Expressivity is variable for most of the molecular defects. However, achondroplasia is a well-defined and common bone dysplasia, with an incidence of approximately 5-15 per 100,000 live births. Gain-of function mutations in FGFR3 have been shown to cause both chondrodysplasias and craniosynostoses and to result in impaired endochondral ossification. Case Presentation: A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was studied. The patient exhibited features such as scoliosis and a trident configuration of the hands, all of which can be explained by a mutations in FGFR3 at c.1138 G >A (p.Gly380Arg). However, prenatal onset growth delay, the speech delay, hypotonia and small triangular face phenotypes were not commonly reported in previous cases of ACH. We further detected a three-fold increase in GRB10 expression. Combining with previous other studies, the one unique feature of this patient that can be directly linked to a GRB10 duplication is the prenatal onset growth delay. Discussion: The data related to the patient described in the present study at least suggest that mutations in FGFR3 cause ACH, but do not influence the effects of the duplication of GRB10 on prenatal onset growth delay in SRS. The results of our study also suggest that phenotypes are rarely “simple” or directly related to specific gene defects and that combinations of uncommon, rare and exceptional molecular defects, which can be explored and used in diagnoses, may explain the so-called variability observed in the expression of dominant traits.

Yingjun Xie, PhD, is working in the Key Laboratory for Major Obstetric Diseases of Guangdong Province, China. She is doing her research in Clinical Genetic Disorders (such as Down syndrome, microdeletion/microduplication syndrome, autism, dissociative disorders and identity disorder).

Email: [email protected]

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