Case report of LAMA2 gene mutation in a patient of merosin-deficient congenital muscular dystrophy type 1A and literature review

WANG Bao-tian; YANG Li; WU De; TANG Jiu-lai

doi:10.11852/zgetbjzz2017-25-06-32

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Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (6) : 646-648. DOI: 10.11852/zgetbjzz2017-25-06-32

Case report of LAMA2 gene mutation in a patient of merosin-deficient congenital muscular dystrophy type 1A and literature review

WANG Bao-tian, YANG Li, WU De, TANG Jiu-lai

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Abstract

Objective To perform prenatal gene diagnosis on sporadic case with congenital muscular dystrophy(CMD). Method The clinical data of 1 patient with CMD and blood samples of the child and parents were collected,pathogenic genes were detected using gene sequencing. Results The child with the onset of after birth,appeared motor retardation,hypotonia,increased of serum creatine kinase.EMG showed myogenic damage.Cranial MRI showed that the bilateral frontal and temporal cerebral sulcus and subarachnoid space were wider.Gene sequencing revealed that the c.3735+2-3735+8delinsAAAGAAGGA gene LAMA2 homozygous mutated from the children's father.The genetic test confirmed the diagnosis of MDC1A. Conclusions If the child's clinical manifestations of motor retardation,increased creatine kinase and EMG showed myogenic damage,CMD should be promptly considered,and early genetic testing can confirm the diagnosis.

Key words

congenital muscular dystrophy / LAMA2 / germline mosaicism / mutation / merosin

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WANG Bao-tian, YANG Li, WU De, TANG Jiu-lai. Case report of LAMA2 gene mutation in a patient of merosin-deficient congenital muscular dystrophy type 1A and literature review[J]. Chinese Journal of Child Health Care. 2017, 25(6): 646-648 https://doi.org/10.11852/zgetbjzz2017-25-06-32

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