A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.

[achondroplasia]

Hypochondroplasia (HCH ) is a mild , autosomal dominant human skeletal dysplasias characterized by short extremities , short stature and lumbar lordosis . There are three other kinds of dwarfism (Pseudoachondroplasia , Achondroplasia and Thanatophoric Syndromes ) with similar clinical features , which makes it difficult to give a precise diagnosis . Molecular genetic analysis of related genes should be employed .In this study , we reported a Chinese family diagnosed as a type of skeletal dysplasia based on clinical and radiologic findings . To make an accurate diagnosis quickly and economically , we performed microarray-based next -generation sequencing (NGS ) to detect the variants in the disease-related genes (FGFR 3 and COMP ).The mother presents short limbed stature , short iliac bones , short femoral necks , short stubby tibia and mildly increased fibular length and genu varum . Her fetus demonstrated abnormally short femur at 23 and 28 week 's gestation by ultrasound scan , and was highly suspected with dwarfism . Eventually , a novel missense mutation (c .1024 G >T ) in FGFR 3 was identified by next -generation sequencing . The substitution is found in both the mother and her fetus . The mutation was further confirmed by Sanger sequencing .T his is the first report of missense mutation identified in the IgIII domain of the FGFR 3 gene using NGS . Our results extended the mutational spectrum of FGFR 3 and proved that applications of NGS and bioinformatics are effective methods for skeletal dysplasia diagnosis in clinical practices .

Diseases
Validation

Diseases presenting "similar clinical features" symptom

achondroplasia

benign recurrent intrahepatic cholestasis

erdheim-chester disease

holt-oram syndrome

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