Mulchandani-Bhoj-Conlin综合征个案报道
Mulchandani-Bhoj-Conlin Syndrome Case Report
DOI: 10.12677/ACM.2023.13122848, PDF,   
作者: 乔婷婷：三峡大学第一临床医学院儿科，湖北 宜昌；蔡正维*：宜昌市中心人民医院儿科，湖北 宜昌
关键词: Mulchandani-Bhoj-Conlin综合征；单亲二体；生长发育迟缓；喂养困难；Mulchandani-Bhoj-Conlin Syndrome； Uniparental Disomy； Growth Retardation； Feeding Difficulties
摘要: Mulchandani-Bhoj-Conlin综合征(Mulchandani-Bhoj-Conlin syndrome, MBCS)是一种印记基因功能缺陷相关性遗传疾病。MBCS患者临床主要表现为胎儿宫内发育迟缓、发育迟滞、重度身材矮小伴头围减小、喂养困难(大部分患者在婴儿期或幼儿期需要鼻饲治疗)、第五指屈指畸形、肌张力减退、重度运动迟缓等。此外，MBCS患者对生长激素治疗反映良好，治疗后可出现线性生长加速。MBCS发病率不详。MBCS为常染色体显性遗传，通常由染色体20q11-q13区域母源单亲二体(Uniparental disomy, UPD)或该区域父源等位基因发生致病的缺失变异所致(Mulchandani (2016) Genet Med 18,309, Hjortshoj (2020) Clin Genet 97,902)。
Abstract: Mulchandani-Bhoj-Conlin syndrome (MBCS) is a genetic disease associated with functional defects in imprinted genes. The clinical manifestations of MBCS patients are mainly fetal intrauterine devel-opmental delay, developmental delay, severe short stature with reduced head circumference, feed-ing difficulties (most patients require nasal feeding treatment in infancy or early childhood), fifth finger flexion deformity, hypotonia, and severe motor delay. In addition, MBCS patients have a good response to growth hormone therapy and may experience linear growth acceleration after treat-ment. The incidence rate of MBCS is unknown. MBCS is an autosomal dominant inheritance, usually caused by pathogenic deletion mutations in the maternal uniparental disomy (UPD) or paternal al-lele of chromosome 20q11-q13 (Mulchandani (2016) Genet Med 18,309 Hjobshortj (2020) Clin Genet 97,902).
文章引用：乔婷婷, 蔡正维. Mulchandani-Bhoj-Conlin综合征个案报道[J]. 临床医学进展, 2023, 13(12): 20235-20238. https://doi.org/10.12677/ACM.2023.13122848

参考文献

[1] Wakeling, E.L., Brioude, F., Lokulo-Sodipe, O., et al. (2017) Diagnosis and Management of Silver-Russell Syndrome: First International Consensus Statement. Nature Reviews Endocrinology, 13, 105-124. [Google Scholar] [CrossRef] [PubMed]
[2] Fuke, T., Nakamura, A., Inoue T., et al. (2021) Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum. Journal of Clinical Endocrinology & Metabolism, 106, 802-813. [Google Scholar] [CrossRef] [PubMed]
[3] Berglund, A., Viuff, M.H., Skakkebæk, A., Chang, S., Stochholm, K. and Gravholt, C.H. (2019) Changes in the Cohort Composition of Turner Syndrome and Severe Non-Diagnosis of Klinefelter, 47,XXX and 47,XYY Syndrome: A Nationwide Cohort Study. Orphanet Journal of Rare Diseases, 14, 16. [Google Scholar] [CrossRef] [PubMed]
[4] Calanchini, M., Moolla, A., Tomlinson, J.W., et al. (2018) Liver Biochemical Abnormalities in Turner Syndrome: A Comprehensive Characterization of an Adult Population. Clinical Endocrinology, 89, 667-676. [Google Scholar] [CrossRef] [PubMed]
[5] Sun, L., Wang, Y., Zhou T., et al. (2019) Glucose Metabolism in Turner Syndrome. Frontiers in Endocrinology (Lausanne), 10, 49. [Google Scholar] [CrossRef] [PubMed]
[6] Wegiel, M., Antosz, A., Gieburowska, J., et al. (2019) Autoimmunity Predisposition in Girls with Turner Syndrome. Frontiers in Endocrinology (Lausanne), 10, 511. [Google Scholar] [CrossRef] [PubMed]
[7] Robinson, W.P. (2000) Mechanisms Leading to Uniparental Disomy and Their Clinical Consequences. Bioessays, 22, 452-459. [Google Scholar] [CrossRef] 
[8] Del Gaudio, D., Shinawi, M., Astbury, C., Tayeh, M.K., Deak, K.L. and Raca, G. (2020) Diagnostic Testing for Uniparental Disomy: A Points to Consider Statement from the American College of Medical Genetics and Genomics (ACMG). Genetics in Med-icine, 22, 1133-1141. [Google Scholar] [CrossRef] [PubMed]
[9] Yamazawa, K., Ogata, T. and Fergu-son-Smith A.C. (2010) Uniparental Disomy and Human Disease: An Overview. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154C, 329-334. [Google Scholar] [CrossRef] [PubMed]
[10] 刘勉, 张锐. 20号染色体的非整倍体及单亲二体的相关研究进展[J]. 中国产前诊断杂志(电子版), 2021, 13(3): 6-11.
[11] 朱丽芬, 张慧敏. 纯合区域/单亲二体的判定及临床咨询原则[J]. 中华医学遗传学杂志, 2021, 38(11): 1140-1144.
[12] Kawashima, S., Nakamura, A., Inoue, T., et al. (2018) Ma-ternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients. Journal of Clinical Endocrinology & Metabolism, 103, 2083-2088. [Google Scholar] [CrossRef] [PubMed]
[13] Turan, S. and Bastepe, M. (2015) GNAS Spectrum of Disorders. Cur-rent Osteoporosis Reports, 13, 146-158. [Google Scholar] [CrossRef] [PubMed]
[14] Geneviève, D., Sanlaville, D., Faivre, L., et al. (2005) Paternal Deletion of the GNAS Imprinted Locus (including Gnasxl) in Two Girls Presenting with Severe pre- and Post-Natal Growth Retardation and Intractable Feeding Difficulties. European Journal of Human Genetics, 13, 1033-1039. [Google Scholar] [CrossRef] [PubMed]
[15] Plagge, A., Gordon, E., Dean, W., et al. (2004) The Imprinted Sig-naling Protein XL Alphas Is Required for Postnatal Adaptation to Feeding. Nature Genetics, 36, 818-826. [Google Scholar] [CrossRef] [PubMed]
[16] Xie, T., Plagge, A., Gavrilova, O., et al. (2006) The Alternative Stimulatory G Protein Alpha-Subunit XLalphas Is a Critical Regulator of Energy and Glucose Metabolism and Sympathetic Nerve Ac-tivity in Adult Mice. Journal of Biological Chemistry, 281, 18989-18999. [Google Scholar] [CrossRef] 
[17] Ball, S.T., Kelly, M.L., Robson, J.E., et al. (2013) Gene Dosage Ef-fects at the Imprinted Gnas Cluster. PLOS ONE, 8, e65639. [Google Scholar] [CrossRef] [PubMed]
[18] Yu, S., Gavrilova, O., Chen, H., et al. (2000) Paternal versus Maternal Transmission of a Stimulatory G-Protein Alpha Sub-unit Knockout Produces Opposite Effects on Energy Metabolism. Journal of Clinical Investigation, 105, 615-623. [Google Scholar] [CrossRef] 

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