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A CASE WITH HETEROZYGOTE N540K HYPOCHONDROPLASIA-CLINICAL FEATURES.

Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) and thanatophoric dysplasia. Hypochondroplasia is a skeletal dysplasia which is characterized by short stature, macrocephaly, brachydactyly, limited range of motion at the elbows, lumbar lordosis and bowed legs. Radiological features of hypochondroplasia are flared metaphyses, narrowed interpedicular distance, square ilia, and short femoral necks.

The patient was a 1 year and 2 months old boy, who was born at full term after an uncomplicated pregnancy and delivery. There was no consanguinity between parents. His height was 80 cm (-0.4 SDS), his weight was 8,5 kg (-2.9 SDS) and head circumference was 51 cm (99p). He had frontal bossing, macrocephaly, a mildly flattened nasal bridge, and short limbs, cafe-au-lait spot on the skin which measured 1,5x0,5 cm. The serum concentrations of bIochemIcal values and thyroid hormone were normal.

Genomic DNA was extracted from peripheral blood leukocytes by standard procedures. PCR amplification of exons 7,10, 13, 15 and 19 of FGFR3 was performed. We found N540K (c.1620 C>A) heterozygote mutation in the FGFR3 gene in our patient.

A heterozygous c.1620C>A mutation was identified in exon 13 which is a major hotspot of the FGFR3 gene. This mutation leads to aminoacid substitution; asparagine to lysine (p.N540K). 1620C>A and 1620C>G mutations are determined in approximately 50-70% of hypochondroplasia patients. This case represents the importance of evaluating the shortness in childhood and genetic counseling in cases for hypochondroplasia.

Ozlem Oz, Ebru Tuncez

Department of Medical Genetics, Sanliurfa Training and Research Hospital, Sanliurfa, Turkey

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Title Annotation:Poster Presentation Abstracts
Author:Oz, Ozlem; Tuncez, Ebru
Publication:Erciyes Medical Journal
Article Type:Brief article
Date:Jun 1, 2017
Words:273
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