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中华脑科疾病与康复杂志(电子版) ›› 2020, Vol. 10 ›› Issue (03) : 183 -186. doi: 10.3877/cma.j.issn.2095-123X.2020.03.012

所属专题: 经典病例 文献

病例报告

SLC16A2基因变异一例报道并文献复习
邹品芳1, 黄彦臻1, 黄中燕1, 刘圆圆1, 向俊璐1, 冉莉莉1, 周文智1,()   
  1. 1. 611731 成都,电子科技大学医学院附属妇女儿童医院·成都市妇女儿童中心医院康复科
  • 收稿日期:2020-07-19 出版日期:2020-06-15
  • 通信作者: 周文智

SLC16A2 gene mutation: a case report and literature review

Pinfang Zou1, Yanzhen Huang1, Zhongyan Huang1   

  • Received:2020-07-19 Published:2020-06-15
引用本文:

邹品芳, 黄彦臻, 黄中燕, 刘圆圆, 向俊璐, 冉莉莉, 周文智. SLC16A2基因变异一例报道并文献复习[J]. 中华脑科疾病与康复杂志(电子版), 2020, 10(03): 183-186.

Pinfang Zou, Yanzhen Huang, Zhongyan Huang. SLC16A2 gene mutation: a case report and literature review[J]. Chinese Journal of Brain Diseases and Rehabilitation(Electronic Edition), 2020, 10(03): 183-186.

表1 中国内地6例Allan-Herndon-Dudley综合征患者临床特点
病例来源 年龄 性别 孕周 孕期、新生儿期 家族史 体质量 头围 运动发育 认知 语言 肌张力 腱反射 巴氏征 头MRI 心血管系统 甲状腺功能 基因 其他
病例1[19] 8岁9月 足月 均正常 正常 17.2 kg(<-3SD) 未记录 不能竖头、不会翻身、坐、爬、站、走 严重落后 无言语 降低 亢进 + 脑白质髓鞘化不良(8岁9月) 心电图:窦性心动过速 TT3正常;FT3增高;TT4正常;FT4降低;TSH正常 c.916C>T,p.Q306X(母源) 面部瘦长,额头窄,脸颊窄,张口,唇厚,上唇帐篷样凸出,双耳稍大
病例2[19] 9月 足月 均正常 正常 7.6 kg(-1SD~-2SD) 未记录 不能竖头、不会翻身、坐 严重落后 无言语 降低 亢进 + - 心电图:窦性心动过速 TT3正常;FT3增高;TT4降低;FT4降低;TSH正常 c.916C>T,p.Q306X(母源) -
例1、例2为同胞兄弟
病例3[19] 8月19天 足月 均正常 正常 9 kg(正常) 未记录 不能竖头、不会翻身、坐、爬 严重落后 无言语 降低 亢进 + - 心电图:窦性心率 TT3增高;FT3增高;TT4降低;FT4降低;TSH正常 c.61G>T,p.E2lX(新发) -
病例4[19] 1岁3月 足月 均正常 正常 9.5 kg(-lSD) 未记录 不能竖头、不会翻身、坐、爬、站、走 严重落后 无言语 降低 亢进 + 脑白质髓鞘化延迟,双侧额颞部脑外间隙增宽(5月) 心电图:窦性心律 TT3增高;FT3增高;TT4降低;FT4降低;TSH正常 c.695-699delATGGT,p.N232SfsX7(新发) 面部瘦长,额头窄,脸颊窄,张口,唇厚,上唇帐篷样凸出,双耳稍大
病例5[19] 9月 足月 均正常 正常 8 kg(-1SD~-2SD) 未记录 不能竖头、不会翻身、坐、爬 严重落后 无言语 降低 亢进 + 髓鞘化明显落后,髓鞘化程度不足3月龄(7月) 心电图:窦性心动过速 TT3增高;FT3增高;TT4降低;FT4降低;TSH正常 c.42delC,p.W15GfsX69(母源) -
病例6[20] 8月 36+3周 孕期正常;新生儿期:轻度呼吸困难、肌张力低下,新生儿重症肺炎、新生儿高胆红素血症、G6PD、新生儿脑损伤 舅舅因出生后全身肌张力低下,严重智力、运动发育迟滞,l岁时无追光、追物,竖头、抬头、独坐、翻身不能,1岁时不明原因死亡 8.8 kg(-lSD) 44 cm(-lSD) 追光追物迟钝、竖头欠稳、不能坐爬 严重落后 无言语 增高 活跃 - 脑外间隙增宽、髓鞘发育延迟 未记录 TT3增高;FT3未记录;TT4降低;FT4未记录;TSH正常 c.431-1(IVSl)G>C(母源) 长脸、大耳(杯状)、双眼稍内斜;平时易咳呛,易患肺炎;痉挛样姿势、阵发性手足徐动、脊柱向左侧侧弯;双侧隐睾
本例 11月 足月 孕期正常;新生儿期有"可疑缺氧"、"新生儿黄疸"史 正常 8 kg(-1SD~-2SD) 45 cm(-lSD) 头控差、竖颈晃动,不会翻身、坐、爬;抓握不能 严重落后 逗笑出声,偶发单元音 降低 降低 + 脑干区斑片状异常信号,考虑代谢性脱髓鞘病变 心脏听诊Ⅰ~Ⅱ级吹风样杂音;心电图:正常;心脏彩超:卵圆孔未闭 TT3增高;FT3增高;TT4正常;FT4正常;TSH正常 c.467_469delTCT(p.F156del)(母源) 喉间长期闻及痰鸣
[1]
Friesema EC, Ganguly S, Abdalla A, et al. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter[J]. J Biol Chem, 2003, 278(41): 40128-40135.
[2]
Dumitrescu AM, Liao XH, Best TB, et al. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene[J]. Am J Hum Genet, 2004, 74(1): 168-175.
[3]
Remerand G, Boespflug-Tanguy O, Tonduti D, et al. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations[J]. Dev Med Child Neurol, 2019, 61(12): 1439-1447.
[4]
Allan W, Herndon CN, Dudley FC. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly[J]. Am J Ment Defic, 1944, 48: 325-334.
[5]
Schwartz CE, May MM, Carpenter NJ, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene[J]. Am J Hum Genet, 2005, 77(1): 41-53.
[6]
Bernal J. Thyroid hormone receptors in brain development and function[J]. Nat Clin Pract Endocrinol Metab, 2007, 3(3): 249-259.
[7]
Friesema EC, Kuiper GG, Jansen J, et al. Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism[J]. Mol Endocrinol, 2006, 20(11): 2761-2772.
[8]
Vancamp P, Deprez MA, Remmerie M, et al. Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 in neural progenitors impairs cellular processes crucial for early corticogenesis[J]. J Neurosci, 2017, 37(48): 11616-11631.
[9]
Wirth EK, Roth S, Blechschmidt C, et al. Neuronal 3’,3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome[J]. J Neurosci, 2009, 29(30): 9439-9449.
[10]
Biebermann H, Ambrugger P, Tarnow P, et al. Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8[J]. Eur J Endocrinol, 2005, 153(3): 359-366.
[11]
Novara F, Groeneweg S, Freri E, et al. Clinical and molecular characteristics of SLC16A2 (MCT8) mutations in three families with the Allan-Herndon-Dudley syndrome[J]. Hum Mutat, 2017, 38(3): 260-264.
[12]
Friesema EC, Grueters A, Biebermann H, et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation[J]. Lancet, 2004, 364(9443): 1435-1437.
[13]
Islam MS, Namba N, Ohata Y, et al. Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients[J]. Endocr J, 2019, 66(1): 19-29.
[14]
Frints SG, Lenzner S, Bauters M, et al. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression[J]. Eur J Hum Genet, 2008, 16(9): 1029-1037.
[15]
Garcia-de Teresa B, Gonzalez-Del Angel A, Reyna-Fabian ME, et al. Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome[J]. Thyroid, 2015, 25(3): 361-367.
[16]
Ono E, Ariga M, Oshima S, et al. Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features[J]. Clin Pediatr Endocrinol, 2016, 25(2): 23-35.
[17]
Boccone L, Mariotti S, Dessì V, et al. Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH[J]. Eur J Med Genet, 2010, 53(6): 392-395.
[18]
Kobayashi S, Onuma A, Inui T, et al. Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation[J]. Pediatr Neurol, 2014, 51(3): 414-416.
[19]
王佳平,章清萍,包新华,等.五例Allan-Herndon-Dudley综合征患儿的临床及遗传学特点分析[J].中华医学遗传学杂志, 2018, 35(4): 484-488.
[20]
唐玉琳,彭镜,熊娟,等. SLC16A2基因突变致Allan-Herndon-Dudley综合征一家系[J].中华儿科杂志, 2018, 56(11): 829-834.
[21]
Dumitrescu AM, Liao XH, Best TB, et al. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene[J]. Am J Hum Genet, 2004, 74(1): 168-175.
[22]
Anık A, Kersseboom S, Demir K, et al. Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations[J]. Horm Res Paediatr, 2014, 82(4): 261-271.
[23]
Boccone L, Dessì V, Meloni A, et al. Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels[J]. Eur J Med Genet, 2013, 56(4): 207-210.
[24]
Philips AK, Siren A, Avela K, et al. X-exome sequencing in finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes[J]. Orphanet J Rare Dis, 2014, 9: 49.
[25]
Fuchs O, Pfarr N, Pohlenz J, et al. Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation[J]. Dev Med Child Neurol, 2009, 51(3): 240-244.
[26]
Verge CF, Konrad D, Cohen M, et al. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency[J]. J Clin Endocrinol Metab, 2012, 97(12): 4515-4523.
[27]
Vancamp P, Darras VM. From zebrafish to human: a comparative approach to elucidate the role of the thyroid hormone transporter MCT8 during brain development[J]. Gen Comp Endocrinol, 2018, 265: 219-229.
[28]
Braun D, Schweizer U. The chemical chaperone phenylbutyrate rescues MCT8 mutations associated with milder phenotypes in patients with Allan-Herndon-Dudley syndrome[J]. Endocrinology, 2017, 158(3): 678-691.
[29]
Zada D, Tovin A, Lerer-Goldshtein T, et al. Altered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardation[J]. PLoS Genet, 2014, 10(9): e1004615.
[30]
Lee JY, Kim MJ, Deliyanti D, et al. Overcoming monocarboxylate transporter 8 (MCT8)-deficiency to promote human oligodendrocyte differentiation and myelination[J]. EBioMedicine, 2017, 25: 122-135.
[31]
Ferrara AM, Liao XH, Ye H, et al. The thyroid hormone analog DITPA ameliorates metabolic parameters of male mice with MCT8 deficiency[J]. Endocrinology, 2015, 156(11): 3889-3894.
[32]
Barez-Lopez S, Grijota-Martinez C, Liao XH, et al. Intracerebroventricular administration of the thyroid hormone analog TRIAC increases its brain content in the absence of MCT8[J]. PLoS One, 2019, 14(12): e0226017.
[33]
Groeneweg S, Peeters RP, Visser TJ, et al. Triiodothyroacetic acid in health and disease[J]. J Endocrinol, 2017, 234(2): R99-R121.
[34]
Kersseboom S, Horn S, Visser WE, et al. In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency[J]. Mol Endocrinol, 2014, 28(12): 1961-1970.
[35]
Groeneweg S, Peeters RP, Moran C, et al. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial[J]. Lancet Diabetes Endocrinol, 2019, 7(9): 695-706.
[36]
Bauer AJ. Triac in the treatment of Allan-Herndon-Dudley syndrome[J]. Lancet Diabetes Endocrinol, 2019, 7(9): 661-663.
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