Hypochondroplasia in a Child With 1620c>G (Asn540lys) Mutation in FGFR3
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چکیده
منابع مشابه
Hypochondroplasia in a Child with 1620C>G (Asn540Lys) Mutation in FGFR3
Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in the germline are well-known causes of skeletal syndromes. FGFR3 is a negative regulator of bone growth and all mutat...
متن کاملA Japanese familial case of hypochondroplasia with a novel mutation in FGFR3
Keiko Nagahara1, 2*, Yuki Harada3*, Tohru Futami3, Masaki Takagi1, 4, Gen Nishimura5, and Yukihiro Hasegawa1 1Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 2Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan 3Department of Orthopedic Surgery, Shiga Medical Center for Children, Shiga, Japan 4Department of Pediatric...
متن کاملHypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?
FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial malignancies (multiple myeloma and prostate and bladder carcinoma). Hypochondroplasia is the most common type of short-limb dwarfism in children res...
متن کاملAcanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3
Acanthosis nigricans (AN) is observed in some cases of skeletal dysplasia. However, AN has occasionally been reported in patients with hypochondroplasia (HCH), and a clinical diagnosis is sometimes difficult when its physical and radiological features are mild. Mutations in the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been identified as the cause of some types of skele...
متن کاملSuccessful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)
Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N5...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2012
ISSN: 1308-5727
DOI: 10.4274/jcrpe.787