1. Clinical Analysis In44Patients With Short Stature2. Mutation Study Of FGFR3Gene In3Achondroplasia Families

Objective Analyze the pathogenesis、clinical feature and treatment of patients withshort stature. Methods We collected the clinical data of44patients with short stature inEndocrine Department of Inner Mongolia Medical University Affiliated Hospital from2010to2013, the last reviewed them roundly. Results Among44patients with short stature,there were sixteen patients with hypothyroidism, accounting for36.36%, containing primaryhypothyroidism（TSH＞100uIU/ml）and secondary hypothyroidism（4.87uIU/ml＜TSH＜10.00uIU/ml）; nine patients with GHD（two growth hormone stimulation test: GH were lessthan10ng/ml）, accounting for20.45%; five patients with ISS（a kind of exclusion ofdiagnosis）, accounting for11.36%; four patients with TS（chromosomal pattern: two patientswith45，X/46，X，（iXq）,one patient with46，X，（iXq），one patient with45，X/46,XX）,accounting for9.09%; four patients with ACH（large head, wide face, short limb, fingers in a“Trident”）, accounting for9.09%; three patients with constitutional delay of puberty（beingdelayed temporary pubertal development delay, and genetic factors, often a family history）,accounting for6.82%;one patient with Down’s Syndrome, accounting for2.27%;one patientwith Silver-Russell Syndrome, accounting for2.27%；one patient with pseudohypoparathyroidism，accounting for2.27%. Conclusion The pathogenesis of short stature is complex. Shortstature has different clinical features，and diagnosis of short stature is much more difficult.Take history of patients with short stature in detail and complete various examinations inorder to diagnose and treat earlier. Objective Detect and analyze the mutation of fibroblast growth factor receptor3in3achondroplasia families. Methods Extraction of leukocyte DNA from peripheral vein:DNA was extracted from peripheral blood from3achondroplasia families.PCR amplificationof FGFR3gene： A set of primers were designed to amplify some of the exons that encodethe FGFR3protein and the adjacent introns regions of the patients and theirfamilies.Restriction enzymes enzyme digestion: The PCR amplified products were subjectedto restriction endonuclease.Agarose gel electrophoresis: PCR amplified products andrestriction enzymes enzyme products were subjected to agarose gel electrophoresis to confirmthe PCR amplified products for target fragments and to determine whether tomutate.Sequencing: PCR amplified products were purified and sequenced. The sequencingresults were compared with the reference sequence (NM-000142) to determine the presenceor absence of FGFR3gene mutations. Results A de novo heterozygous G1138A mutationwas detected in2patients, and this mutation made the amino acid at position380of theFGFR3protein change from glycine to arginine. The remaining2patients did not mutate inthe present study mutation sites.Conclusion G1138A heterozygous mutation of FGFR3gene which maybe lead to ACH was detected in2patients with ACH in the family2and3.This mutation was hotspot mutation. There may be a new mutation sites in the patients offamily1, yet study should continue.In family2and3, the proband’s mutation was a de novoone. In family1, the mother’s mutation may be de novo, and the proband’s may be inheritedfrom his mother.