参考文献

Grody, W. W. et al. ACMG position statement on prenatal/preconception expanded carrier screening. Genetics in Medicine 15, 482–483, doi:10.1038/gim.2013.47 (2013)

Bell, C. J. et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Science translational medicine 3, 65ra4-65ra4, doi: 10.1126/scitranslmed.3001756 (2011)

Haque, I. S. et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA 316, 734-742, doi:10.1001/jama.2016.11139 (2016)

Lazarin, G. A. et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genetics in Medicine 15, 178-186, doi:10.1038/gim.2012.114 (2012)..

Spratley, S. J. et al. Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. Traffic (Copenhagen, Denmark) 17, 908-922, doi:10.1111/tra.12404 (2016).

Ratbi, I. et al. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. American journal of human genetics 97, 535-545, doi:10.1016/j.ajhg.2015.08.011 (2015).

Huang, X. F. et al. Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. Genetics in medicine : official journal of the American College of Medical Genetics 17, 271-278, doi:10.1038/gim.2014.138 (2015).

Zeng, H. S. et al. Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. International journal of molecular medicine 34, 1241-1248, doi:10.3892/ijmm.2014.1929 (2014).

Liu, S. P., Ding, J., Wang, F., Zhang, Y. Q. & Ye, J. T. Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. World journal of pediatrics : WJP 10, 271-274, doi:10.1007/s12519-014-0503-z (2014).

Li, Q. et al. Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. Chinese medical journal 127, 3233-3237 (2014).

Hossain, M. A. et al. Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. Gene 534, 144-154, doi:10.1016/j.gene.2013.11.003 (2014).

Hao, X. et al. Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. PloS one 9, e92661, doi:10.1371/journal.pone.0092661 (2014).

Yao, G. et al. Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. Acta oto-laryngologica 133, 833-841, doi:10.3109/00016489.2013.777160 (2013).

Xin, F. et al. Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China. J Transl Med 11, 312, doi:10.1186/1479-5876-11-312 (2013).

Wongkittichote, P., Tungpradabkul, S., Wattanasirichaigoon, D. & Jensen, L. T. Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency. Journal of inherited metabolic disease 36, 821-830, doi:10.1007/s10545-012-9543-5 (2013).

Wongkittichote, P. et al. Screening of SLC25A13 mutation in the Thai population. World J Gastroenterol 19, 7735-7742, doi:10.3748/wjg.v19.i43.7735 (2013).

Miyagawa, M., Naito, T., Nishio, S. Y., Kamatani, N. & Usami, S. Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. PloS one 8, e71381, doi:10.1371/journal.pone.0071381 (2013).

Foo, J. N. et al. Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease. Neurobiology of aging 34, 2890.e2813-2895, doi:10.1016/j.neurobiolaging.2013.06.010 (2013).

Zhang, Z. H., Lin, W. X., Deng, M., Zhao, X. J. & Song, Y. Z. Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency. Gene 511, 227-234, doi:10.1016/j.gene.2012.09.049 (2012).

Schushan, M., Bhattacharjee, A., Ben-Tal, N. & Lutsenko, S. A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. Metallomics : integrated biometal science 4, 669-678, doi:10.1039/c2mt20025b (2012).

Tang, S. et al. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. Journal of medical genetics 48, 669-681, doi:10.1136/jmedgenet-2011-100222 (2011).

Mehta, A. R., Fox, S. H., Tarnopolsky, M. & Yoon, G. Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. Movement disorders : official journal of the Movement Disorder Society 26, 753-755, doi:10.1002/mds.23510 (2011).

McCoy, B. et al. Partial status epilepticus - rapid genetic diagnosis of Alpers' disease. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 15, 558-562, doi:10.1016/j.ejpn.2011.05.012 (2011).

Hunter, M. F., Peters, H., Salemi, R., Thorburn, D. & Mackay, M. T. Alpers syndrome with mutations in POLG: clinical and investigative features. Pediatric neurology 45, 311-318, doi:10.1016/j.pediatrneurol.2011.07.008 (2011).

Huang, S. et al. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med 9, 167, doi:10.1186/1479-5876-9-167 (2011).

He, J. X. et al. [Clinical features and molecular analysis of 2 Chinese children with autosomal recessive chronic granulomatous disease caused by CYBA mutations]. Zhonghua er ke za zhi = Chinese journal of pediatrics 49, 853-857 (2011).

Xu, S. et al. Rapid detection of glycogen storage disease type Ia by DNA microarray. Clinical chemistry and laboratory medicine 48, 1229-1234, doi:10.1515/cclm.2010.244 (2010).

Stewart, J. D. et al. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Journal of medical genetics 46, 209-214, doi:10.1136/jmg.2008.058180 (2009).

Kim, Y. M. et al. Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea. Journal of Korean medical science 24, 1045-1050, doi:10.3346/jkms.2009.24.6.1045 (2009).

Lee, K. Y. et al. Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. International journal of pediatric otorhinolaryngology 72, 1301-1309, doi:10.1016/j.ijporl.2008.05.007 (2008).

Han, S. H. et al. Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population. Journal of human genetics 53, 1022-1028, doi:10.1007/s10038-008-0342-7 (2008).

Ashley, N. et al. Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet 17, 2496-2506, doi:10.1093/hmg/ddn150 (2008).

Wang, Q. J. et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clinical genetics 72, 245-254, doi:10.1111/j.1399-0004.2007.00862.x (2007).

Hu, H. et al. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. Journal of human genetics 52, 492-497, doi:10.1007/s10038-007-0139-0 (2007).

Haas, D. et al. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). Journal of inherited metabolic disease 30, 375-387, doi:10.1007/s10545-007-0537-7 (2007).

Nguyen, K. V., Sharief, F. S., Chan, S. S., Copeland, W. C. & Naviaux, R. K. Molecular diagnosis of Alpers syndrome. J Hepatol 45, 108-116, doi:10.1016/j.jhep.2005.12.026 (2006).

Cho, M. A. et al. The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. Endocrine 30, 237-243, doi:10.1385/endo:30:2:237 (2006).

Wassif, C. A. et al. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. Molecular genetics and metabolism 85, 96-107, doi:10.1016/j.ymgme.2004.12.009 (2005).

Margarit, E. et al. Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clinical genetics 68, 61-68, doi:10.1111/j.1399-0004.2005.00439.x (2005).

Wasserstein, M. P. et al. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 114, e672-677, doi:10.1542/peds.2004-0887 (2004).

Lee, D. H. et al. The molecular basis of phenylketonuria in Koreans. Journal of human genetics 49, 617-621, doi:10.1007/s10038-004-0197-5 (2004).

Park, H. J. et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. Journal of medical genetics 40, 242-248 (2003).

43 Simonaro, C. M., Desnick, R. J., McGovern, M. M., Wasserstein, M. P. & Schuchman, E. H. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. American journal of human genetics 71, 1413-1419, doi:10.1086/345074 (2002).

44 Yamada, M. et al. Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. Br J Haematol 108, 511-517 (2000).

45 Witsch-Baumgartner, M. et al. Mutational spectrum in the Delta7-sterol reductase gene and