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| Birk Barel Syndrome Caused by KCNK9 Gene Mutation: A Case Report and Literature Review |
| LI Jun-shuai, LIAO Zhen-yu, HUANG Rui-wen |
| Department of Neonatology, Hunan Children's Hospital, Changsha, 410007,China |
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Abstract 【Objective】To summarize the clinical manifestations of a case of Birk Barrel syndrome caused by KCNK9 gene mutation in our hospital, and to explore the characteristics and treatment of gene mutation of related diseases. 【Methods】The clinical datas of a case of Birk-Barel syndrome diagnosed and treated by the Department III of Neonatology in Hunan Children's Hospital in March 2019 were analyzed retrospectively. Using "KCNK9 gene", "KCNK9 imprinting syndrome" and "Birk-Barel syndrome" as key words to search databases at home and abroad, such as Wanfang database, CNKI and PubMed (from the establishment of database to May 2020), this paper summarizes the variation characteristics of KCNK9 gene and the clinical manifestations, treatment and prognosis of children with Birk-Barel syndrome. 【Results】This case is a boy. The main manifestations are: poor sucking, narrow and long craniofacial region, maxillary protrusion, mandibular retrusion, palmar penetration of both hands, contracture of index finger, middle finger and ring finger of both hands, inability to passively straighten, low muscle tension of limbs, incomplete original emission. High precision clinical exon sequencing showed that KCNK9 gene heterozygous mutation (NM-016601), the mutation site was c.706G > A (p.g236R). At present, there was no case report of Birk-Barel syndrome caused by KCNK9 gene mutation in China. A total of 20 cases of children with 3 articles abroad were retrieved, and 21 cases were added with this case. In 20 cases, the change of heterotopia was mainly c.770g > A, c.706g > C, c.706g > A, c.710c > A. In this case, the change of amino acid was p.a236n (1/21).【Conclusion】The main clinical manifestations of Birk-Barel syndrome are: congenital central hypotonia (manifested as hypokinesia, drowsiness, weak crying), severe eating difficulties caused by facial weakness and poor sucking, developmental retardation or mental retardation, and deformity. Treatment needs multidisciplinary intervention and regular follow-up and evaluation.
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Received: 31 August 2020
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[1] Barel O,Shalev SA, Ofir R,et al. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9[J].Am J Hum Genet,2008,83(2):193-199.
[2] Bando Y.Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex[J].Cereb Cortex,2014,24(4):1017-1029.
[3] Graham JM, Zadeh N, Kelley M, et al. KCNK9 imprinting syndrome-further delineation of a possible treatable disorder[J].Am J Med Genet,2016, 170(10):2632-2637.
[4] Marie edivá,Petra La uthová,Josef Zámecˇník,et al. Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome[J].Eur J Med Genet,2020,63(1):103619.
[5] Temple IK. Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome[J].Endocr Dev, 2007,12:113-123.
[6] Veale EL, Hassan M, Walsh Y,et al. Recovery of current through mutated TASK3 potassium channels underlying birk barel syndrome[J].Mol Pharmacol,2014,85(3):397-407.
[7] Linden AM, Sandu C, Aller MI,et al. TASK-3 knockout mice exhibit exaggerated nocturnal activity impairments in cognitive functions, and reduced sensitivity to inhalation anesthetics[J].J Pharmacol Exp Ther,2007,323(3):924.
[8] Brickley SG, Aller MI, Sandu C,et al. TASK-3 two-pore domain potassium channels enable sustained high-frequency firing in cerebellar granule neurons[J].J Neurosci,2007,27(35):9329-9440.
[9] Nico R,Sylvia B,Danuta G,et al. Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human[J].Hum Mol Genet,2007,16(21):2591-2599.
[10] Veale EL, Hassan M, Walsh Y,et al. Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome[J].Mol Pharmacol,2014,85(3):397-407.
[11] Takahira M, Sakurai M, Sakurada N,et al. Fenamates and diltiazem modulate lipid-sensitive mechano-gated 2P domain K(+) channels [J].Eur J Physiol,2005,451(3):474-478. |
| [1] |
. [J]. JOURNAL OF CLINICAL RESEARCH, 2020, 37(6): 807-809. |
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2020, Vol. 37 
