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A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient

, : A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient. Gene 576(1 Pt 1): 176-181

Osteopetrosis is a group of heterogeneous disorders caused by the dysfunction of osteoclasts. The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO). IMO patients usually die in infancy or before three years of age. In this study, we report a patient who was diagnosed with IMO at seven months of age. The patient presented with classical radiological features of IMO. She also exhibited erythropenia, thrombocytopenia, hepatosplenomegaly and neurodegeneration. The parents discontinued any medical treatment for the patient. Surprisingly, the patient's condition did not deteriorate when she was admitted a second time at the age of four years and nine months, despite not receiving any medical support during the untreated period. We sequenced the CLCN7 and TCIRG1 genes of the patient and her parents and identified a novel c.285+1G>A (IVS3+1G>A) mutation and the known c.896C>T (p.Ala299Val) mutation. The novel c.285+1G>A mutation occurred on the splice donor of the third intron of CLCN7. This mutation was predicted to interfere with normal splicing between exons 3 and 4, thereby truncating 711 amino acids from the C terminus and resulting in the loss of all of the functional domains of the encoded protein. The c.896C>T (p.Ala299Val) mutation was a previously known pathogenic mutation. We did not find any pathogenic mutations in the TCIRG1 gene. CLCN7-related osteopetrosis is known to have a high phenotype heterogeneity. Our study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene.


PMID: 26477479

DOI: 10.1016/j.gene.2015.10.021

Other references

Himes, M.B.; Rizski, R.; Hoffman, J.; Pollister, A.W.; Post, J., 1954: Cytoplasmic ribonucleic acid in the human liver cell. A.M.A. Archives of Pathology 58(4): 345-353

Elitsur, Y.; Urbach, J.; Hershkovich, J.; Moses, S., 1984: Localized cerebral involvement caused by a yellow scorpion sting on the face: two case reports. Two case reports are presented from the Negev region of Israel involving transient hemisyndromes due to localized cerebral involvement followed a sting on the face by the scorpion Leiurus quinquestriatus. Both patients were 7 years old.

Dubey, N.; Letourneau, P.C.; Tranquillo, R.T., 2001: Neuronal contact guidance in magnetically aligned fibrin gels: Effect of variation in gel mechano-structural properties. Neurite outgrowth from chick dorsal root ganglia entrapped in isotropic and magnetically aligned fibrin gels was studied, and the dependence on the diameter of the fibrin fibrils was characterized. The fibrin fibril diameter was varied, as inferre...

Gotoh M.; Kondo A.; Mitsuya H., 1987: Inhibitory effect of a calcium entry blocker verapamil on the detrusor muscle contractility feasibility of clinical application. Effects of a Ca2+ entry blocker (verapamil) on the contractility of the bladder detrusor muscle of rabbits were investigated in vitro and in vivo. In experiments using smooth muscle strips from the bladder detrusor, isometric tension changes of th...

Ladabaum, U.; Scheiman, J.; Fendrick, M., 2001: Cost-effectiveness of cyclooxygenase-2 inhibitors as adjuncts or substitutes for colorectal cancer screening. Gastroenterology 120(5 Supplement 1): A 15, April

Treole, K.; Trudeau, M.D., 1998: Changes in sustained production tasks among women with bilateral vocal nodules before and after voice therapy. The purpose of the current study was to determine how maximum phonation duration (MPD) of five notes (C4, D4, E4, F4, G4) sustained on /o/, sustained vowels (/i/, /ae/, /a/, /u/), and s/z ratio (sustained /s/ and /z/) changed during voice therapy...

Wang WuChang, 1994: Effects of fruit setting positions on yield and quality of carambola. Fruit set can occur on 5 shoot types in carambola (new, ripening, side, sub-main and main shoots). Results from 2 years of study on cv. Tainung No.1 showed that yield/plant was highest from the ripening shoots (52.4 kg) followed by the new shoots...

Pavelka, J., 1978: The effect of different storage temperatures on keeping frozen fish fresh--the organoleptical and chemical parameters. Veterinarni medicina 23(8): 491-498

Damon, S.R.; Johnson, M.B., 1944: A rapid agglutination test for the diagnosis of tularemia. Reliable agglutination results in suspected cases of tularemia may be obtained almost immediately by the technique described.

Massagué, J.; Heino, J.; Laiho, M., 1991: Mechanisms in TGF-beta action. The various isoforms of TGF-beta are multifunctional. We are exploring pathways of cellular regulation by TGF-beta that lead to suppression of cell proliferation, modulation of cell adhesion and control of cell differentiation. These cellular resp...