A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1
نویسندگان
چکیده
Shinji Higuchi1, Masaki Takagi1, 2, Satoshi Shimomura3, Gen Nishimura4, and Yukihiro Hasegawa1, 2 1Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 2Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 3Department of Orthopedics, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 4Department of Radiology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan
منابع مشابه
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.
BACKGROUND The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X collagen of cartilage. METHODS We performed a study on the genes coding for the RNA components of RNase MRP (MRPR) and RNase P (H1RNA) among 20 patients with diagnosis of MCDS and no mutations in COL10A1. RESULTS Two patients were found to be homozygous for a base s...
متن کاملCongenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...
متن کاملJapanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene
Metaphyseal dysplasia, Schmid type (MS, OMIM #156500) is a bone dysplasia that presents with autosomal dominant inheritance. MS belongs to the “Metaphyseal dysplasia” group in the “Nosology and Classification of Genetic Skeletal Disorders” (1). Its clinical symptoms include coxa vara, bowed leg, short stature, short limbs, and normal facial appearance. An orthopedic operation can be conducted f...
متن کاملMutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
Type X collagen is a homotrimer of alpha 1 (X) chains encoded by the COL10A1 gene. It is synthesised specifically and transiently by hypertrophic chondrocytes at sites of endochondral ossification. Point mutations and deletions in the region of the COL10A1 gene encoding the alpha 1 (X) carboxyl-terminal (NC1) domain have previously been identified in subjects with metaphyseal chondrodysplasia t...
متن کاملگزارش یک مورد کندرودیسپلازی متافیزیال تیپ اشمیت
Mataphyseal chondrodysplasia is a term for group of dysplasias, characterized by radiographic changes in metaphyse tubular bones with normal epiphysis. Ït has various types with the name of Schmid type Janson and Mckusis. Schmid type metaphyseal chondrodysplasia is more common in infants, characterized by slight to moderate hieght, bending of limbs and waddling gate. This disease is caused by...
متن کامل